Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
Balkan Med J
; 35(4): 336-339, 2018 07 24.
Article
em En
| MEDLINE
| ID: mdl-29545233
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 corticospinalcerebellar 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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tratos Piramidais
/
Epilepsia
/
Subunidades alfa do Canal de Potássio Ativado por Cálcio de Condutância Alta
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Deficiência Intelectual
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Mutação
Limite:
Adolescent
/
Humans
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Infant
/
Male
Idioma:
En
Revista:
Balkan Med J
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Turquia