A Family With Paroxysmal Nonkinesigenic Dyskinesia: Genetic and Treatment Issues
✍ Scribed by Krzysztof Szczałuba; Marta Jurek; Elz˙bieta Szczepanik; Andrzej Friedman; Michał Milewski; Jerzy Bal; Tadeusz Mazurczak
- Book ID
- 116825542
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 168 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0887-8994
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## Abstract The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the __Myofibrillogenesis regulator 1__ gene (__MR‐1__), which causes an alanine‐to‐valine substitut
## Abstract Only few sporadic and familial cases of paroxysmal exercise‐induced dyskinesia (PED) have been described in literature. PED associated with familial epilepsy has been rarely reported. We describe a family in which six members in different generations were affected by a long‐lasting PED,