Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Identifieur interne : 002257 ( PubMed/Corpus ); précédent : 002256; suivant : 002258Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Auteurs : Natalia Babkina ; Joshua L. Deignan ; Hane Lee ; Eric Vilain ; Raman Sankar ; Irina Giurgea ; David Mowat ; John M. GrahamSource :
- European journal of medical genetics [ 1878-0849 ] ; 2016.
English descriptors
- KwdEn :
- Aicardi Syndrome (diagnosis), Aicardi Syndrome (genetics), Aicardi Syndrome (physiopathology), DNA Mutational Analysis, Electroencephalography, Exome, Facies, Hirschsprung Disease (diagnosis), Hirschsprung Disease (genetics), Homeodomain Proteins (genetics), Humans, Infant, Newborn, Intellectual Disability (diagnosis), Intellectual Disability (genetics), Microcephaly (diagnosis), Microcephaly (genetics), Repressor Proteins (genetics), Spasms, Infantile (diagnosis), Spasms, Infantile (genetics), Spasms, Infantile (physiopathology).
- MESH :
- chemical , genetics : Homeodomain Proteins, Repressor Proteins.
- diagnosis : Aicardi Syndrome, Hirschsprung Disease, Intellectual Disability, Microcephaly, Spasms, Infantile.
- genetics : Aicardi Syndrome, Hirschsprung Disease, Intellectual Disability, Microcephaly, Spasms, Infantile.
- physiopathology : Aicardi Syndrome, Spasms, Infantile.
- DNA Mutational Analysis, Electroencephalography, Exome, Facies, Humans, Infant, Newborn.
Abstract
Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function. We present a case of EIEE associated with a de novo missense variant in ZEB2. Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases.
DOI: 10.1016/j.ejmg.2015.12.006
PubMed: 26721324
Links to Exploration step
pubmed:26721324Le document en format XML
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<series><title level="j">European journal of medical genetics</title>
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<term>DNA Mutational Analysis</term>
<term>Electroencephalography</term>
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<term>Facies</term>
<term>Hirschsprung Disease (diagnosis)</term>
<term>Hirschsprung Disease (genetics)</term>
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<term>Humans</term>
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<term>Spasms, Infantile (genetics)</term>
<term>Spasms, Infantile (physiopathology)</term>
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<term>Repressor Proteins</term>
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<front><div type="abstract" xml:lang="en">Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function. We present a case of EIEE associated with a de novo missense variant in ZEB2. Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases.</div>
</front>
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<Abstract><AbstractText>Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function. We present a case of EIEE associated with a de novo missense variant in ZEB2. Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases.</AbstractText>
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