PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

Neurology

Volumn 79, Issue 21, 2012, Pages 2109-2114

  Marini, Carla ^a   Conti, Valerio ^a   Mei, Davide ^a   Battaglia, Domenica ^b   Lettori, Donatella ^b   Losito, Emma ^b   Bruccini, Grazia ^c   Tortorella, Gaetano ^c   Guerrini, Renzo ^a,d  

^a UNIVERSITY OF FLORENCE   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GENOMIC DNA; PROLINE;

ABSENCE; ADOLESCENT; ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BENIGN CHILDHOOD EPILEPSY; BENIGN FAMILIAL INFANTILE SEIZURE; CHILD; CHOREOATHETOSIS; CHROMOSOME 16P; CLINICAL ARTICLE; COHORT ANALYSIS; DYSKINESIA; FAMILY; FEBRILE CONVULSION; FOCAL EPILEPSY; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HEMIPLEGIC MIGRAINE; HETEROZYGOTE; HUMAN; INFANT; INFANTILE CONVULSION AND PAROXYSMAL CHOREOATHETOSIS; MIGRAINE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAROXYSMAL DYSKINESIA; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRRT2 GENE; SCHOOL CHILD; SPLICING DEFECT; TONIC CLONIC SEIZURE;

EID: 84871270731     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182752ca2     Document Type: Article

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