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