Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.

ABSTRACT: Developmental and epileptic encephalopathies (DEEs) are neurodevelopmental diseases characterized by refractory epilepsy, distinct electroencephalographic and neuroradiological features, and various degrees of developmental delay. Mutations in KCNQ2, KCNQ3, and, more rarely, KCNQ5 genes encoding voltage-gated potassium channel subunits variably contributing to excitability control of specific neuronal populations at distinct developmental stages have been associated to DEEs. In the present work, the clinical features of two DEE patients carrying de novo KCNQ5 variants affecting the same residue in the pore region of the Kv7.5 subunit (G347S/A) are described. The in vitro functional properties of channels incorporating these variants were investigated with electrophysiological and biochemic

SUBMITTER: Nappi M 

PROVIDER: S-EPMC9169635 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature