TY - JOUR
T1 - Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation
T2 - A Peculiar Behavioral Phenotype
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
Y1 - 2018/6/1
N2 - 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.
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
KW - AOS-variants
KW - atypical absences
KW - DOCK6
KW - epileptic encephalopathy
UR - http://www.scopus.com/inward/record.url?scp=85045143036&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85045143036&partnerID=8YFLogxK
U2 - 10.1055/s-0038-1639372
DO - 10.1055/s-0038-1639372
M3 - Article
AN - SCOPUS:85045143036
VL - 49
SP - 217
EP - 221
JO - Neuropediatrics
JF - Neuropediatrics
SN - 0174-304X
IS - 3
ER -