Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.
Neuropediatrics
; 49(3): 217-221, 2018 06.
Article
en En
| MEDLINE
| ID: mdl-29631299
ABSTRACT
Adams-Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb malformations of variable severity. When neurological findings are present, patients are reported as AOS variants. We describe a child with compound heterozygosity of the DOCK6 gene, aplasia cutis, terminal transverse limb defects, cardiovascular impairment, intellectual disability, and brain malformations with intracranial calcifications. He suffers from a severe refractory epileptic encephalopathy characterized by polymorphic seizures with prolonged periods of electroencephalogram (EEG), continuous epileptiform activity related to clinical inactivity, and closure of eyes with an "ON-OFF" behavior.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Dermatosis del Cuero Cabelludo
/
Displasia Ectodérmica
/
Deformidades Congénitas de las Extremidades
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Factores de Intercambio de Guanina Nucleótido
/
Epilepsia
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Neuropediatrics
Año:
2018
Tipo del documento:
Article
País de afiliación:
Italia