Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP

Epilepsy Research

Volumn 104, Issue 3, 2013, Pages 280-284

  Labate, Angelo ^a   Tarantino, Patrizia ^b   Palamara, Grazia ^a   Gagliardi, Monica ^b   Cavalcanti, Francesca ^b   Ferlazzo, Edoardo ^a,c   Sturniolo, Miriam ^b   Incorpora, Gemma ^d   Annesi, Grazia ^a   Aguglia, Umberto ^a,c   Gambardella, Antonio ^a,b  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^c BIANCHI MELACRINO MORELLI HOSPITAL   (Italy)

^d UNIVERSITY OF CATANIA   (Italy)

Author keywords

Febrile convulsion; Genetics; Infantile seizure; PRRT2 gene; SUDEP

Indexed keywords

5' UNTRANSLATED REGION; ADULT; ARTICLE; BENIGN FAMILIAL INFANTILE SEIZURE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; EXON; FAMILIAL DISEASE; FAMILIAL PAROXYSMAL KINESIGENIC DYSTONIA; FEBRILE CONVULSION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HETEROZYGOTE; HUMAN; INFANT DISEASE; INTRON; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRRT2 GENE; SEIZURE; SUDDEN DEATH; SUDDEN UNEXPLAINED DEATH IN EPILEPSY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DYSTONIA; EPILEPSY, BENIGN NEONATAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SEIZURES; SEIZURES, FEBRILE;

EID: 84877005371     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2012.10.014     Document Type: Article

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