Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

Epilepsia

Volumn 53, Issue 12, 2012, Pages

  Labate, Angelo ^a   Tarantino, Patrizia ^b   Viri, Maurizio ^c   Mumoli, Laura ^a   Gagliardi, Monica ^a,b   Romeo, Antonino ^c   Zara, Federico ^d   Annesi, Grazia ^a   Gambardella, Antonio ^a,b  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^c FATEBENEFRATELLI HOSPITAL   (Italy)

^d G GASLINI INSTITUTE   (Italy)

Author keywords

Benign familial infantile convulsion; Mental retardation; Mutation analysis; Paroxysmal kinesigenic dyskinesia; PRRT2

Indexed keywords

ACETAZOLAMIDE; CARBAMAZEPINE; LAMOTRIGINE; VALPROIC ACID;

ABSENCE; ADOLESCENT; ADULT; ARTICLE; ATAXIA; BENIGN FAMILIAL INFANTILE SEIZURE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; DRUG HYPERSENSITIVITY; DRUG WITHDRAWAL; FAMILIAL DISEASE; FAMILIAL PAROXYSMAL KINESIGENIC DYSTONIA; FEMALE; GENE; GENE DUPLICATION; GENE SEGREGATION; HETEROZYGOSITY; HUMAN; MALE; MENTAL DEFICIENCY; PAROXYSMAL DYSTONIA; PHENOTYPE; PRIORITY JOURNAL; PRRT 2 GENE; SEIZURE; SYMPTOM;

ADOLESCENT; ADULT; ATAXIA; CHILD; CHOREA; EPILEPSY, BENIGN NEONATAL; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; YOUNG ADULT;

EID: 84870592909     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12009     Document Type: Article

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