Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

Mary Kurian Christian M KorffEmmanuelle RanzaAndrea BernasconiAnja LübbigSrishti NangiaGian Paolo RamelliGabriele WohlrabDouglas R NordliThomas Bast

Published in: Developmental medicine and child neurology (2017)

Focal cortical malformations and monogenic epilepsy syndromes may coexist. Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures.

Keyphrases

case report
young adults
temporal lobe epilepsy
gene expression
dna methylation
genome wide