Abstract Protocadherin-19 (PCDH19) pathogenic variants cause an early-onset seizure
disorder called girls clustering epilepsy (GCE). GCE is an X-chromosome disorder that�…

Purpose: Mutations of the protocadherin19 gene (PCDH19) cause a female‐related
epilepsy of variable severity, with or without mental retardation and autistic features. Despite�…

CASK-related disorders are a form of rare X-linked neurological diseases and most of the
patients are females. They are characterized by several symptoms, including microcephaly�…

Epileptic encephalopathy is defined as a condition where the epileptic activity itself may
contribute to the severe neurological and cognitive impairment seen, over and above that�…

Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability
(ID) and behavioural disturbances. Only heterozygous females and mosaic males are�…

Mutations in PCDH19 gene, which encodes protocadherin-19 (PCDH19), cause
Developmental and Epileptic Encephalopathy 9 (DEE9). Heterogeneous loss of PCDH19�…

Dravet syndrome is a severe infantile-onset epilepsy syndrome with a distinctive but
complex electroclinical presentation. A healthy, developmentally normal infant presents at�…

Cell–cell recognition guides the assembly of the vertebrate brain during development. δ-
Protocadherins comprise a family of neural adhesion molecules that are differentially�…

Objective Phenotypes caused by de novo SCN 1A pathogenic variants are very variable,
ranging from severely affected patients with Dravet syndrome to much milder genetic�…

The causes of genetic epilepsies are unknown in the majority of patients. HCN ion channels
have a widespread expression in neurons and increasing evidence demonstrates their�…