KEGG DISEASE: Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp

KEGG

DISEASE: Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp

Entry

H02939                      Disease

Name

Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp

Description

Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder. It has been reported that mutations in TBC1D24 cause EPRPDC. It is suggested that TBC1D24 controls protein homeostasis at synapses, and disrupting the function of TBC1D24 results in severe synaptic defects and epileptic seizures.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H02939  Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp

Gene

TBC1D24 [HSA:57465] [KO:K21841]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G

Title

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

Journal

Ann Neurol 45:344-52 (1999)
DOI:10.1002/1531-8249(199903)45:3<344::aid-ana10>3.0.co;2-9

Reference

Authors

Luthy K, Mei D, Fischer B, De Fusco M, Swerts J, Paesmans J, Parrini E, Lubarr N, Meijer IA, Mackenzie KM, Lee WT, Cittaro D, Aridon P, Schoovaerts N, Versees W, Verstreken P, Casari G, Guerrini R

Title

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

Journal

Brain 142:2319-2335 (2019)
DOI:10.1093/brain/awz175

LinkDB

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