Paroxysmal exercise induced dyskinesias (PED) are rare disorders with recurring episodes of sudden involuntary movement disorders precipitated by physical exercise. It had been reported that less than 20% of PED patients carry an SLC2A1 mutation encoding GLUT 1 of whom 49 patients have been identified worldwide We hereby reported a case of twin siblings, 23 year old male with no antecedent other past illness and family history presenting with writer’s cramps and paroxysmal exercise induced dyskinesia attributed to milder phenotype of glucose transporter type 1 deficiency with the heterozygous exon-6 SLC2A1 gene mutation. Ketogenic diet in these patients may help in these cases
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder, with an excellent respon...
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous...
Paroxysmal dyskinesias and episodic ataxias are often caused by mutations in genes related to cell m...
Background: Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1...
Paroxysmal dyskinesias (PxD) are rare movement disorders with characteristic episodes of involuntary...
Introduction Paroxysmal exercise-induced dyskinesia (PED) is characterized by repeated episodes of i...
Paroxysmal exercise-induced dyskinesia (PED) can occur in isolation or in association with epilepsy,...
Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercis...
Objective: Mutations in SLC2A1, encoding the glucose transporter type 1 (GLUT1), cause a broad spect...
We describe two Finnish siblings in whom an incidentally detected elevated creatine kinase activity ...
McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gen...
Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskine...
Paroxysmal movement disorders are a heterogeneous group of conditions manifesting as episodic dyskin...
These authors contributed equally to this work. Paroxysmal dyskinesia can be subdivided into three c...
Paroxysmal kinesigenic dyskinesia is a neurological condition characterised by brief attacks of invo...
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder, with an excellent respon...
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous...
Paroxysmal dyskinesias and episodic ataxias are often caused by mutations in genes related to cell m...
Background: Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1...
Paroxysmal dyskinesias (PxD) are rare movement disorders with characteristic episodes of involuntary...
Introduction Paroxysmal exercise-induced dyskinesia (PED) is characterized by repeated episodes of i...
Paroxysmal exercise-induced dyskinesia (PED) can occur in isolation or in association with epilepsy,...
Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercis...
Objective: Mutations in SLC2A1, encoding the glucose transporter type 1 (GLUT1), cause a broad spect...
We describe two Finnish siblings in whom an incidentally detected elevated creatine kinase activity ...
McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gen...
Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskine...
Paroxysmal movement disorders are a heterogeneous group of conditions manifesting as episodic dyskin...
These authors contributed equally to this work. Paroxysmal dyskinesia can be subdivided into three c...
Paroxysmal kinesigenic dyskinesia is a neurological condition characterised by brief attacks of invo...
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder, with an excellent respon...
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous...
Paroxysmal dyskinesias and episodic ataxias are often caused by mutations in genes related to cell m...