Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype

Livia Pisciotta; Valeria Capra; Andrea Accogli; Thea Giacomini; Giulia Prato; Purificação Tavares; Jorge Pinto-Basto; Giovanni Morana; Maria Margherita Mancardi

doi:10.1055/s-0038-1639372

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype

Livia Pisciotta, Valeria Capra, Andrea Accogli, Thea Giacomini, Giulia Prato, Purificação Tavares, Jorge Pinto-Basto, Giovanni Morana, Maria Margherita Mancardi

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article

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.

Original language	English
Pages (from-to)	217-221
Number of pages	5
Journal	Neuropediatrics
Volume	49
Issue number	3
DOIs	https://doi.org/10.1055/s-0038-1639372
Publication status	Published - Jun 1 2018

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Keywords

Adams-Oliver syndrome
AOS-variants
atypical absences
DOCK6
epileptic encephalopathy

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

Cite this

Pisciotta, L., Capra, V., Accogli, A., Giacomini, T., Prato, G., Tavares, P., Pinto-Basto, J., Morana, G., & Mancardi, M. M. (2018). Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. Neuropediatrics, 49(3), 217-221. https://doi.org/10.1055/s-0038-1639372

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation : A Peculiar Behavioral Phenotype. / Pisciotta, Livia; Capra, Valeria; Accogli, Andrea; Giacomini, Thea; Prato, Giulia; Tavares, Purificação; Pinto-Basto, Jorge; Morana, Giovanni ; Mancardi, Maria Margherita.

In: Neuropediatrics, Vol. 49, No. 3, 01.06.2018, p. 217-221.

Research output: Contribution to journal › Article

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10.1055/s-0038-1639372