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

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 paro...

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Principais autores:	Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Trakya University 2018-08-01
סדרה:	Balkan Medical Journal
נושאים:	Cerebellar atrophy dyskinesia epilepsy KCNMA1 spinal tract atrophy
גישה מקוונת:	http://balkanmedicaljournal.org/text.php?lang=en&id=1979
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!