Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability
Date Issued
2020
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Subjects
epilepsy
;
pcdh19
;
autism
;
intellectual disability
;
sodium channel nav1.1
;
topiramate
;
valproic acid
;
article
;
behavior disorder
;
case report
;
clinical article
;
cognitive defect
;
epilepsy
;
epileptic state
;
female
;
fever
;
focal motor seizure
;
focal motor seizure
;
gene
;
heterozygote
;
human
;
intellectual impairment
;
mental health service
;
pcdh19 gene
;
phenotype
;
scn1a gene
;
seizure