The epilepsy phenotype of KCNK4-related neurodevelopmental disease.

Abstract excerpt

INTRODUCTION: Potassium ion channels play a crucial role in maintaining cellular electrical stability and are implicated in various epilepsies. Heterozygous pathogenic variants in KCNK4 cause a recognizable neurodevelopmental syndrome with facial dysmorphism, hypertrichosis, epilepsy, intellectual disability (ID), and gingival overgrowth (FHEIG). To date, no more than nine patients with FHEIG have been described...

Topics

Join the communities discussing this publication.

• Child
• Child, Preschool
• Drug Resistant Epilepsy
• Epilepsy
• Intellectual Disability