Varied phenotypic spectrum presenting of paroxysmal exercise-induced dyskinesia: a Turkish family with SLC2A1 mutation.

Gultekin, Murat; Dogan, Muhammet Ensar; Simsir, Gulsah; Basak, Ayse Nazli

Gultekin, Murat; Dogan, Muhammet Ensar; Simsir, Gulsah; Basak, Ayse Nazli.

Afiliación

Gultekin M; Department of Neurology, Faculty of Medicine, Erciyes University, 38039, Kayseri, Turkey. gultekin@erciyes.edu.tr.
Dogan ME; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Simsir G; Department of Molecular Biology and Genetics, School of Medicine, Koç University, Istanbul, Turkey.
Basak AN; Department of Molecular Biology and Genetics, School of Medicine, Koç University, Istanbul, Turkey.

Neurol Sci ; 42(11): 4751-4754, 2021 Nov.

Article en En | MEDLINE | ID: mdl-34279792

Asunto(s)

Corea; Epilepsia; Trastornos del Movimiento; Transportador de Glucosa de Tipo 1; Humanos; Mutación; Fenotipo

Palabras clave

Paroxysmal exerciseinduced dystonia; SLC2A1 mutation; Variable phenotype; Whole exome sequencing

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Corea / Epilepsia / Trastornos del Movimiento Límite: Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Turquía

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