Genetics: Expanding the spectrum of neurological disorders associated with PRRT2 mutations

Nature Reviews Neurology

Volumn 8, Issue 12, 2012, Pages 657-

  Wood, Heather ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; SYNAPTOSOMAL ASSOCIATED PROTEIN 25; UNCLASSIFIED DRUG;

BENIGN FAMILIAL INFANTILE EPILEPSY; DYSKINESIA; EPILEPSY; FEBRILE CONVULSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEMIPLEGIC MIGRAINE; HUMAN; NEUROLOGIC DISEASE; NOTE; PAROXYSMAL KINESIGENIC DYSKINESIA; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PRRT2 GENE; RISK FACTOR;

EID: 84870805787     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2012.240     Document Type: Note

References (5)

1. Marini, C. et al. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology doi:10.1212/ WNL0b013e3182752ca2
2. Gardiner, A. R. et al. PRRT2 gene mutations: from paroxysmal dyskinesias to episodic ataxia and hemiplegic migraine. Neurology doi:10.1212/WNL. 0b013e3182752c5a
3. Cloarec, R. et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology doi:10.1212/WNL0b013e3182752c46
4. Scheffer, I. E. et al. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology doi:10.1212/WNL0b013e3182752c6c
5. Riant, F et al. PRRT2 mutations cause hemiplegic migraine. Neurology doi:10.1212/WNL.0b013e3182752cb8