Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
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.
['Babkina|Natalia|N|', 'Deignan|Joshua L|JL|', 'Lee|Hane|H|', 'Vilain|Eric|E|', 'Sankar|Raman|R|', 'Giurgea|Irina|I|', 'Mowat|David|D|', 'Graham|John M|JM|']
D058540:Aicardi Syndrome D004252:DNA Mutational Analysis D004569:Electroencephalography D059472:Exome D019066:Facies D006627:Hirschsprung Disease D018398:Homeodomain Proteins D006801:Humans D007231:Infant, Newborn D008607:Intellectual Disability D008831:Microcephaly D012097:Repressor Proteins D013036:Spasms, Infantile D000074165:Zinc Finger E-box Binding Homeobox 2
ZEB2 Infantile Epileptic Encephalopathy (EIEE) Seizures Burst-suppression EEG pattern Clinical exome sequencing Cortical gray and white matter atrophy Developmental delay Infantile spasms Mowat–Wilson syndrome (MWS)