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

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

BALKAN MEDICAL JOURNAL, vol.35, no.4, pp.336-339, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 4
  • Publication Date: 2018
  • Doi Number: 10.4274/balkanmedj.2017.0986
  • Journal Name: BALKAN MEDICAL JOURNAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.336-339
  • Keywords: Cerebellar atrophy, dyskinesia, epilepsy, KCNMA1, spinal tract atrophy, HIPPOCAMPAL PYRAMIDAL CELLS, BK-TYPE, CHANNELS
  • Bezmialem Vakıf University Affiliated: Yes

Abstract

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.