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 › peer-review

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

Keywords

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

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.1055/s-0038-1639372

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

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.",

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AU - Pisciotta, Livia

AU - Capra, Valeria

AU - Accogli, Andrea

AU - Giacomini, Thea

AU - Prato, Giulia

AU - Tavares, Purificação

AU - Pinto-Basto, Jorge

AU - Morana, Giovanni

AU - Mancardi, Maria Margherita

PY - 2018/6/1

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AB - 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.

KW - Adams-Oliver syndrome

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KW - atypical absences

KW - DOCK6

KW - epileptic encephalopathy

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

Abstract

Keywords

ASJC Scopus subject areas

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