KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure

Uctepe, E; Esen, FN; Tumer, S; Mancilar, H; Yesilyurt, A

Yesilyurt, A (通讯作者)，Acibadem Labgen Genet Diag Ctr, Kerem Aydinlar Kampusu Kayisdagi Cad B Blok 32, TR-34752 Atasehir, Turkey.

INTRACTABLE & RARE DISEASES RESEARCH, 2022; 11 (4): 219

Abstract

Potassium voltage-gated channel subfamily B member 1 (KCNB1) encodes Kv2.1 potassium channel. KCNB1 mutations are known to cause global developmental ......

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