Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?

Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

Abstract

INTRODUCTION: Kaczyńska 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.

Detaljer

Författare
Enheter & grupper
Externa organisationer
  • Skåne University Hospital
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Neurologi

Nyckelord

Originalspråkengelska
Sidor (från-till)3-5
Antal sidor3
TidskriftNeurologia i neurochirurgia polska
Volym54
Utgåva nummer1
StatusPublished - 2020 mar 2
PublikationskategoriForskning
Peer review utfördNej