The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Identifieur interne : 001687 ( PubMed/Corpus ); précédent : 001686; suivant : 001688The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Auteurs : Ayelet Zerem ; Kazuhiro Haginoya ; Dorit Lev ; Lubov Blumkin ; Sara Kivity ; Ilan Linder ; Cheryl Shoubridge ; Elizabeth Emma Palmer ; Michael Field ; Jackie Boyle ; David Chitayat ; William D. Gaillard ; Eric H. Kossoff ; Marjolaine Willems ; David Geneviève ; Frederic Tran-Mau-Them ; Orna Epstein ; Eli Heyman ; Sarah Dugan ; Alice Masurel-Paulet ; Ame'Lie Piton ; Tjitske Kleefstra ; Rolph Pfundt ; Ryo Sato ; Andreas Tzschach ; Naomichi Matsumoto ; Hirotomo Saitsu ; Esther Leshinsky-Silver ; Tally Lerman-SagieSource :
- Epilepsia [ 1528-1167 ] ; 2016.
English descriptors
- KwdEn :
- Adolescent, Adult, Brain (diagnostic imaging), Child, Child, Preschool, Cohort Studies, Electroencephalography, Epilepsy (diagnostic imaging), Epilepsy (genetics), Epilepsy (physiopathology), Female, Genetic Association Studies, Guanine Nucleotide Exchange Factors (genetics), Humans, Magnetic Resonance Imaging, Male, Mutation (genetics), Phenotype, Young Adult.
- MESH :
- chemical , genetics : Guanine Nucleotide Exchange Factors.
- diagnostic imaging : Brain, Epilepsy.
- genetics : Epilepsy, Mutation.
- physiopathology : Epilepsy.
- Adolescent, Adult, Child, Child, Preschool, Cohort Studies, Electroencephalography, Female, Genetic Association Studies, Humans, Magnetic Resonance Imaging, Male, Phenotype, Young Adult.
Abstract
IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants.
DOI: 10.1111/epi.13560
PubMed: 27665735
Links to Exploration step
pubmed:27665735Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The molecular and phenotypic spectrum of IQSEC2-related epilepsy.</title><author><name sortKey="Zerem, Ayelet" sort="Zerem, Ayelet" uniqKey="Zerem A" first="Ayelet" last="Zerem">Ayelet Zerem</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Haginoya, Kazuhiro" sort="Haginoya, Kazuhiro" uniqKey="Haginoya K" first="Kazuhiro" last="Haginoya">Kazuhiro Haginoya</name><affiliation><nlm:affiliation>Department of Neurology, Takuto Rehabilitation Center for Children, Miyagi Children's Hospital, Sendai, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Lev, Dorit" sort="Lev, Dorit" uniqKey="Lev D" first="Dorit" last="Lev">Dorit Lev</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Blumkin, Lubov" sort="Blumkin, Lubov" uniqKey="Blumkin L" first="Lubov" last="Blumkin">Lubov Blumkin</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Kivity, Sara" sort="Kivity, Sara" uniqKey="Kivity S" first="Sara" last="Kivity">Sara Kivity</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Linder, Ilan" sort="Linder, Ilan" uniqKey="Linder I" first="Ilan" last="Linder">Ilan Linder</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Shoubridge, Cheryl" sort="Shoubridge, Cheryl" uniqKey="Shoubridge C" first="Cheryl" last="Shoubridge">Cheryl Shoubridge</name><affiliation><nlm:affiliation>Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Palmer, Elizabeth Emma" sort="Palmer, Elizabeth Emma" uniqKey="Palmer E" first="Elizabeth Emma" last="Palmer">Elizabeth Emma Palmer</name><affiliation><nlm:affiliation>GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation><nlm:affiliation>GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><affiliation><nlm:affiliation>GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Gaillard, William D" sort="Gaillard, William D" uniqKey="Gaillard W" first="William D" last="Gaillard">William D. Gaillard</name><affiliation><nlm:affiliation>Pediatrics and Neurology, Division Epilepsy and Neurophysiology, Comprehensive Pediatric Epilepsy Program, Center for Neuroscience Research, Children's National Medical Center, George Washington University, Washington, District of Columbia, U.S.A.</nlm:affiliation></affiliation></author><author><name sortKey="Kossoff, Eric H" sort="Kossoff, Eric H" uniqKey="Kossoff E" first="Eric H" last="Kossoff">Eric H. Kossoff</name><affiliation><nlm:affiliation>Departments of Pediatrics and Neurology, The Johns Hopkins Hospital, Baltimore, Maryland, U.S.A.</nlm:affiliation></affiliation></author><author><name sortKey="Willems, Marjolaine" sort="Willems, Marjolaine" uniqKey="Willems M" first="Marjolaine" last="Willems">Marjolaine Willems</name><affiliation><nlm:affiliation>Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation><nlm:affiliation>Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Tran Mau Them, Frederic" sort="Tran Mau Them, Frederic" uniqKey="Tran Mau Them F" first="Frederic" last="Tran-Mau-Them">Frederic Tran-Mau-Them</name><affiliation><nlm:affiliation>Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Epstein, Orna" sort="Epstein, Orna" uniqKey="Epstein O" first="Orna" last="Epstein">Orna Epstein</name><affiliation><nlm:affiliation>Pediatric Neurology Department, Pediatric Epilepsy Service, Asaf Harofeh Medical Center, Zerifin, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Heyman, Eli" sort="Heyman, Eli" uniqKey="Heyman E" first="Eli" last="Heyman">Eli Heyman</name><affiliation><nlm:affiliation>Pediatric Neurology Department, Pediatric Epilepsy Service, Asaf Harofeh Medical Center, Zerifin, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Dugan, Sarah" sort="Dugan, Sarah" uniqKey="Dugan S" first="Sarah" last="Dugan">Sarah Dugan</name><affiliation><nlm:affiliation>Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, U.S.A.</nlm:affiliation></affiliation></author><author><name sortKey="Masurel Paulet, Alice" sort="Masurel Paulet, Alice" uniqKey="Masurel Paulet A" first="Alice" last="Masurel-Paulet">Alice Masurel-Paulet</name><affiliation><nlm:affiliation>Reference Center for Developmental Anomalies and Syndromes, Children's Hospital, CHU Dijon, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Piton, Ame Lie" sort="Piton, Ame Lie" uniqKey="Piton A" first="Ame'Lie" last="Piton">Ame'Lie Piton</name><affiliation><nlm:affiliation>Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104/INSERM U964/Strasbourg University, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Sato, Ryo" sort="Sato, Ryo" uniqKey="Sato R" first="Ryo" last="Sato">Ryo Sato</name><affiliation><nlm:affiliation>Department of Neurology, Takuto Rehabilitation Center for Children, Miyagi Children's Hospital, Sendai, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation><nlm:affiliation>Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name><affiliation><nlm:affiliation>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name><affiliation><nlm:affiliation>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Leshinsky Silver, Esther" sort="Leshinsky Silver, Esther" uniqKey="Leshinsky Silver E" first="Esther" last="Leshinsky-Silver">Esther Leshinsky-Silver</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Lerman Sagie, Tally" sort="Lerman Sagie, Tally" uniqKey="Lerman Sagie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27665735</idno><idno type="pmid">27665735</idno><idno type="doi">10.1111/epi.13560</idno><idno type="wicri:Area/PubMed/Corpus">001687</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001687</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The molecular and phenotypic spectrum of IQSEC2-related epilepsy.</title><author><name sortKey="Zerem, Ayelet" sort="Zerem, Ayelet" uniqKey="Zerem A" first="Ayelet" last="Zerem">Ayelet Zerem</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Haginoya, Kazuhiro" sort="Haginoya, Kazuhiro" uniqKey="Haginoya K" first="Kazuhiro" last="Haginoya">Kazuhiro Haginoya</name><affiliation><nlm:affiliation>Department of Neurology, Takuto Rehabilitation Center for Children, Miyagi Children's Hospital, Sendai, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Lev, Dorit" sort="Lev, Dorit" uniqKey="Lev D" first="Dorit" last="Lev">Dorit Lev</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Blumkin, Lubov" sort="Blumkin, Lubov" uniqKey="Blumkin L" first="Lubov" last="Blumkin">Lubov Blumkin</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Kivity, Sara" sort="Kivity, Sara" uniqKey="Kivity S" first="Sara" last="Kivity">Sara Kivity</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Linder, Ilan" sort="Linder, Ilan" uniqKey="Linder I" first="Ilan" last="Linder">Ilan Linder</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Shoubridge, Cheryl" sort="Shoubridge, Cheryl" uniqKey="Shoubridge C" first="Cheryl" last="Shoubridge">Cheryl Shoubridge</name><affiliation><nlm:affiliation>Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Palmer, Elizabeth Emma" sort="Palmer, Elizabeth Emma" uniqKey="Palmer E" first="Elizabeth Emma" last="Palmer">Elizabeth Emma Palmer</name><affiliation><nlm:affiliation>GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation><nlm:affiliation>GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><affiliation><nlm:affiliation>GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><affiliation><nlm:affiliation>Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Gaillard, William D" sort="Gaillard, William D" uniqKey="Gaillard W" first="William D" last="Gaillard">William D. Gaillard</name><affiliation><nlm:affiliation>Pediatrics and Neurology, Division Epilepsy and Neurophysiology, Comprehensive Pediatric Epilepsy Program, Center for Neuroscience Research, Children's National Medical Center, George Washington University, Washington, District of Columbia, U.S.A.</nlm:affiliation></affiliation></author><author><name sortKey="Kossoff, Eric H" sort="Kossoff, Eric H" uniqKey="Kossoff E" first="Eric H" last="Kossoff">Eric H. Kossoff</name><affiliation><nlm:affiliation>Departments of Pediatrics and Neurology, The Johns Hopkins Hospital, Baltimore, Maryland, U.S.A.</nlm:affiliation></affiliation></author><author><name sortKey="Willems, Marjolaine" sort="Willems, Marjolaine" uniqKey="Willems M" first="Marjolaine" last="Willems">Marjolaine Willems</name><affiliation><nlm:affiliation>Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation><nlm:affiliation>Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Tran Mau Them, Frederic" sort="Tran Mau Them, Frederic" uniqKey="Tran Mau Them F" first="Frederic" last="Tran-Mau-Them">Frederic Tran-Mau-Them</name><affiliation><nlm:affiliation>Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Epstein, Orna" sort="Epstein, Orna" uniqKey="Epstein O" first="Orna" last="Epstein">Orna Epstein</name><affiliation><nlm:affiliation>Pediatric Neurology Department, Pediatric Epilepsy Service, Asaf Harofeh Medical Center, Zerifin, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Heyman, Eli" sort="Heyman, Eli" uniqKey="Heyman E" first="Eli" last="Heyman">Eli Heyman</name><affiliation><nlm:affiliation>Pediatric Neurology Department, Pediatric Epilepsy Service, Asaf Harofeh Medical Center, Zerifin, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Dugan, Sarah" sort="Dugan, Sarah" uniqKey="Dugan S" first="Sarah" last="Dugan">Sarah Dugan</name><affiliation><nlm:affiliation>Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, U.S.A.</nlm:affiliation></affiliation></author><author><name sortKey="Masurel Paulet, Alice" sort="Masurel Paulet, Alice" uniqKey="Masurel Paulet A" first="Alice" last="Masurel-Paulet">Alice Masurel-Paulet</name><affiliation><nlm:affiliation>Reference Center for Developmental Anomalies and Syndromes, Children's Hospital, CHU Dijon, Dijon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Piton, Ame Lie" sort="Piton, Ame Lie" uniqKey="Piton A" first="Ame'Lie" last="Piton">Ame'Lie Piton</name><affiliation><nlm:affiliation>Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104/INSERM U964/Strasbourg University, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Sato, Ryo" sort="Sato, Ryo" uniqKey="Sato R" first="Ryo" last="Sato">Ryo Sato</name><affiliation><nlm:affiliation>Department of Neurology, Takuto Rehabilitation Center for Children, Miyagi Children's Hospital, Sendai, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation><nlm:affiliation>Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name><affiliation><nlm:affiliation>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name><affiliation><nlm:affiliation>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Leshinsky Silver, Esther" sort="Leshinsky Silver, Esther" uniqKey="Leshinsky Silver E" first="Esther" last="Leshinsky-Silver">Esther Leshinsky-Silver</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Lerman Sagie, Tally" sort="Lerman Sagie, Tally" uniqKey="Lerman Sagie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name><affiliation><nlm:affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Epilepsia</title><idno type="eISSN">1528-1167</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Brain (diagnostic imaging)</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Electroencephalography</term><term>Epilepsy (diagnostic imaging)</term><term>Epilepsy (genetics)</term><term>Epilepsy (physiopathology)</term><term>Female</term><term>Genetic Association Studies</term><term>Guanine Nucleotide Exchange Factors (genetics)</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mutation (genetics)</term><term>Phenotype</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Guanine Nucleotide Exchange Factors</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Brain</term><term>Epilepsy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsy</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Epilepsy</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Electroencephalography</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Phenotype</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27665735</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>26</Day></DateCreated><DateCompleted><Year>2017</Year><Month>06</Month><Day>19</Day></DateCompleted><DateRevised><Year>2017</Year><Month>06</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1528-1167</ISSN><JournalIssue CitedMedium="Internet"><Volume>57</Volume><Issue>11</Issue><PubDate><Year>2016</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Epilepsia</Title><ISOAbbreviation>Epilepsia</ISOAbbreviation></Journal><ArticleTitle>The molecular and phenotypic spectrum of IQSEC2-related epilepsy.</ArticleTitle><Pagination><MedlinePgn>1858-1869</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1111/epi.13560</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal communication. The 18 patients who have epilepsy in addition to ID are the subject of this study. Information regarding the 18 patients was ascertained by questionnaire provided to the treating clinicians.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Six affected individuals had an inherited IQSEC2 variant and 12 had a de novo one (male-to-female ratio, 12:6). The pathogenic variant types were as follows: missense (8), nonsense (5), frameshift (1), intragenic duplications (2), translocation (1), and insertion (1). An epileptic encephalopathy was diagnosed in 9 (50%) of 18 patients. Seizure onset ranged from 8 months to 4 years; seizure types included spasms, atonic, myoclonic, tonic, absence, focal seizures, and generalized tonic-clonic (GTC) seizures. The electroclinical syndromes could be defined in five patients: late-onset epileptic spasms (three) and Lennox-Gastaut or Lennox-Gastaut-like syndrome (two). Seizures were pharmacoresistant in all affected individuals with epileptic encephalopathy. The epilepsy in the other nine patients had a variable age at onset from infancy to 18 years; seizure types included GTC and absence seizures in the hereditary cases and GTC and focal seizures in de novo cases. Seizures were responsive to medical treatment in most cases. All 18 patients had moderate to profound intellectual disability. Developmental regression, autistic features, hypotonia, strabismus, and white matter changes on brain magnetic resonance imaging (MRI) were prominent features.</AbstractText><AbstractText Label="SIGNIFICANCE" NlmCategory="CONCLUSIONS">The phenotypic spectrum of IQSEC2 disorders includes epilepsy and epileptic encephalopathy. Epileptic encephalopathy is a main clinical feature in sporadic cases. IQSEC2 should be evaluated in both male and female patients with an epileptic encephalopathy.</AbstractText><CopyrightInformation>Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Zerem</LastName><ForeName>Ayelet</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haginoya</LastName><ForeName>Kazuhiro</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Neurology, Takuto Rehabilitation Center for Children, Miyagi Children's Hospital, Sendai, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lev</LastName><ForeName>Dorit</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Blumkin</LastName><ForeName>Lubov</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kivity</LastName><ForeName>Sara</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Linder</LastName><ForeName>Ilan</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shoubridge</LastName><ForeName>Cheryl</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Palmer</LastName><ForeName>Elizabeth Emma</ForeName><Initials>EE</Initials><AffiliationInfo><Affiliation>GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of New South Wales, Sydney, New South Wales, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Field</LastName><ForeName>Michael</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of New South Wales, Sydney, New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boyle</LastName><ForeName>Jackie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>GOLD Genetics of Learning Disability Service, Waratah, New South Wales, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of New South Wales, Sydney, New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chitayat</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital of Sickkids, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gaillard</LastName><ForeName>William D</ForeName><Initials>WD</Initials><AffiliationInfo><Affiliation>Pediatrics and Neurology, Division Epilepsy and Neurophysiology, Comprehensive Pediatric Epilepsy Program, Center for Neuroscience Research, Children's National Medical Center, George Washington University, Washington, District of Columbia, U.S.A.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kossoff</LastName><ForeName>Eric H</ForeName><Initials>EH</Initials><AffiliationInfo><Affiliation>Departments of Pediatrics and Neurology, The Johns Hopkins Hospital, Baltimore, Maryland, U.S.A.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Willems</LastName><ForeName>Marjolaine</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Geneviève</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tran-Mau-Them</LastName><ForeName>Frederic</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Rare Diseases and Personalized Medicine, Faculty of Medicine, Unit INSERM 1183, CHU Montpellier, University of Montpellier, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Epstein</LastName><ForeName>Orna</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Department, Pediatric Epilepsy Service, Asaf Harofeh Medical Center, Zerifin, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Heyman</LastName><ForeName>Eli</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Department, Pediatric Epilepsy Service, Asaf Harofeh Medical Center, Zerifin, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dugan</LastName><ForeName>Sarah</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota, U.S.A.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Masurel-Paulet</LastName><ForeName>Alice</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Reference Center for Developmental Anomalies and Syndromes, Children's Hospital, CHU Dijon, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Piton</LastName><ForeName>Ame'lie</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104/INSERM U964/Strasbourg University, Strasbourg, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Genetic Diagnostic Laboratory, University Hospitals of Strasbourg, Strasbourg, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kleefstra</LastName><ForeName>Tjitske</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pfundt</LastName><ForeName>Rolph</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sato</LastName><ForeName>Ryo</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Neurology, Takuto Rehabilitation Center for Children, Miyagi Children's Hospital, Sendai, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tzschach</LastName><ForeName>Andreas</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Clinical Genetics, Technische Universität Dresden, Dresden, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Matsumoto</LastName><ForeName>Naomichi</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saitsu</LastName><ForeName>Hirotomo</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leshinsky-Silver</LastName><ForeName>Esther</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lerman-Sagie</LastName><ForeName>Tally</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Institute of Medical Genetics, Holon, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>09</Month><Day>26</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Epilepsia</MedlineTA><NlmUniqueID>2983306R</NlmUniqueID><ISSNLinking>0013-9580</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D020662">Guanine Nucleotide Exchange Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C550083">IQSEC2 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001921" MajorTopicYN="N">Brain</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004569" MajorTopicYN="N">Electroencephalography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004827" MajorTopicYN="N">Epilepsy</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056726" MajorTopicYN="N">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020662" MajorTopicYN="N">Guanine Nucleotide Exchange Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Epileptic encephalopathy</Keyword><Keyword MajorTopicYN="N">Exome sequencing</Keyword><Keyword MajorTopicYN="N">Intellectual disability</Keyword><Keyword MajorTopicYN="N">X-linked</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>08</Month><Day>15</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>9</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>6</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>9</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27665735</ArticleId><ArticleId IdType="doi">10.1111/epi.13560</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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