Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy

Archives of Neurology

Volumn 68, Issue 6, 2011, Pages 812-813

  Dibbens, Leanne M ^a   Karakis, Ioannis ^b   Bayly, Marta A ^a   Costello, Daniel J ^c   Cole, Andrew J ^b   Berkovic, Samuel F ^d  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c University College Cork and INFANT Centre   (Ireland)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PIRACETAM; PROTEIN SCARB2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; DRUG MEGADOSE; DYSARTHRIA; DYSPHAGIA; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GLUCOSE INTAKE; GRAND MAL SEIZURE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; MALE; MYOCLONUS; MYOCLONUS EPILEPSY; NONSENSE MUTATION; ONSET AGE; PATHOGENESIS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; SCARB2 GENE;

ADULT; DEMYELINATING DISEASES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PROGNOSIS; RECEPTORS, SCAVENGER;

EID: 79958707714     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.120     Document Type: Article

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