A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.
J Neural Transm (Vienna)
; 125(12): 1877-1883, 2018 12.
Article
em En
| MEDLINE
| ID: mdl-30182260
We present a family with two members affected by hyperekplexia and two unaffected members. All exons in the glycine receptor alpha 1 subunit gene (GLRA1) were sequenced in all four family members. Our index patient harbored a novel nonsense mutation (p.Trp314*; rs867618642) in the transmembrane domain three of the GLRA1 and a novel missense variant in the NH2-terminal part (p.Val67Met; rs142888296). After development of tolerance for the effective treatment with clobazam a drug holiday led to a sustained restoration of the treatment response.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Reflexo de Sobressalto
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Receptores de Glicina
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Códon sem Sentido
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Hiperecplexia
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article