Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

YEŞİL G. , ARALAŞMAK A. , Akyuz E. , Icagasioglu D. , Sahin T. U. , Bayram Y.

BALKAN MEDICAL JOURNAL, cilt.35, sa.4, ss.336-339, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Konu: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/balkanmedj.2017.0986
  • Sayfa Sayıları: ss.336-339


Background: The KCNKMAI gene encodes the alpha-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNAM1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures.