Expanding the phenotype of homozygous kcnma1 mutations; dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy

Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram

Research output: Contribution to journalArticlepeer-review

28 Scopus citations

Abstract

Background: The KCNMA1 gene encodes the α-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 KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures. Case Report: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss-and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal– cerebellar tract atrophy. Conclusion: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain-and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic.

Original languageEnglish
Pages (from-to)336-339
Number of pages4
JournalBalkan Medical Journal
Volume35
Issue number4
DOIs
StatePublished - 2018
Externally publishedYes

Keywords

  • Cerebellar atrophy
  • Dyskinesia
  • Epilepsy
  • KCNMA1
  • Spinal tract atrophy

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