Defining and refining the phenotype of PRRT2 mutations

Developmental Medicine and Child Neurology

Volumn 55, Issue 4, 2013, Pages 297-297

  Mink, Jonathan W ^a  

^a UNIVERSITY OF ROCHESTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL; BRAIN PROTEIN; CAFFEINE; CARBAMAZEPINE; PHENYTOIN; PRRT2 PROTEIN; UNCLASSIFIED DRUG;

ATAXIA; BRAIN CELL; BRAIN DAMAGE; CLINICAL FEATURE; CONVULSION; DISEASE ASSOCIATION; DISEASE COURSE; DYSKINESIA; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; FAMILY HISTORY; FEBRILE CONVULSION; GENE MUTATION; HUMAN; MIGRAINE; MOTOR DYSFUNCTION; NOTE; PAROXYSMAL DYSKINESIA; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; SEIZURE; SLEEP DEPRIVATION;

DYSKINESIAS; EPILEPSY, BENIGN NEONATAL; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MOVEMENT DISORDERS; MUTATION; NERVE TISSUE PROTEINS; SEIZURES;

EID: 84875053944     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12101     Document Type: Note

References (6)

1. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011; 43: 1252-5.
2. Silveira-Moriyama L, Gardiner A, Meyer E, et al. Clinical features of childhood onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol 2013; doi: 10.1111/dmcn.12056.
3. Cloarec R, Bruneau N, Rudolf G, et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology 2012; 79: 2097-103.
4. Marini C, Conti V, Mei D, et al. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology 2012; 79: 2109-14.
5. Gardiner AR, Bhatia KP, Stamelou M, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012; 79: 2115-21.
6. Scheffer IE, Grinton BE, Heron SE, et al. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology 2012; 79: 2104-8.