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


Yesil G., YEŞİL G., Aralasmak A., ARALAŞMAK A., Akyuz E., Akyuz E., ...Daha Fazla

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/balkanmedj.2017.0986
  • Dergi Adı: BALKAN MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.336-339
  • Anahtar Kelimeler: Cerebellar atrophy, dyskinesia, epilepsy, KCNMA1, spinal tract atrophy, HIPPOCAMPAL PYRAMIDAL CELLS, BK-TYPE, CHANNELS
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.