Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
Neurol Neurochir Pol
; 54(1): 3-5, 2020.
Article
em En
| MEDLINE
| ID: mdl-32115676
ABSTRACT
INTRODUCTION:
Kaczynska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits. CLINICAL REFLECTIONS Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wide range of additional disease manifestations are known. A few patients with M-D have seizures. CLINICAL IMPLICATIONS Altered neuronal excitability has been found in the pathogenesis of M-D. This may explain the partial effectiveness of antiepileptics and a lower seizure threshold, and could encourage trials of other membrane stabilisers. Careful clinical observations of seemingly well-known diseases remain important.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distúrbios Distônicos
/
Canalopatias
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article