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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2018-08-01
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| Series: | Balkan Medical Journal |
| Subjects: | |
| Online Access: | http://balkanmedicaljournal.org/text.php?lang=en&id=1979 |