Benign paroxysmal torticollis of infancy

Disease ID:141
Name:Benign paroxysmal torticollis of infancy
Associated with:1 target
Database Links
Orphanet: ORPHA71518


References:  1-2
Mutations:  Cav2.1 is associated with 2 mutation. Click here for details


No ligand related data available for Benign paroxysmal torticollis of infancy


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1. Giffin NJ, Benton S, Goadsby PJ. (2002) Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol, 44 (7): 490-3. [PMID:12162387]

2. Vila-Pueyo M, Gené GG, Flotats-Bastardes M, Elorza X, Sintas C, Valverde MA, Cormand B, Fernández-Fernández JM, Macaya A. (2014) A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. Eur. J. Paediatr. Neurol., 18 (3): 430-3. [PMID:24445160]