PCDH19-related epilepsy in two mosaic male patients

Epilepsia

Volumn 57, Issue 3, 2016, Pages e51-e55

  Terracciano, Alessandra ^a   Trivisano, Marina ^a   Cusmai, Raffaella ^a   De Palma, Luca ^a   Fusco, Lucia ^a   Compagnucci, Claudia ^a   Bertini, Enrico ^a   Vigevano, Federico ^a   Specchio, Nicola ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Epilepsy; Male; Next generation sequencing; NGS; PCDH19

Indexed keywords

MIDAZOLAM; PHENOBARBITAL; SODIUM CHANNEL NAV1.1; VALPROIC ACID; CADHERIN; PCDH19 PROTEIN, HUMAN;

ADD ON THERAPY; ARTICLE; AUTISM; CASE REPORT; CHILD; COGNITIVE DEFECT; COHORT ANALYSIS; COMPULSION; ELECTROENCEPHALOGRAM; EPILEPSY; FEBRILE CONVULSION; FEMALE; FEVER; FOLLOW UP; GENE; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; MEDICAL RECORD REVIEW; MOSAICISM; MUSCLE HYPERTONIA; NEUROPSYCHOLOGICAL TEST; NEXT GENERATION SEQUENCING; PCDH19 GENE; PCDH19 RELATED EPILEPSY; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SOMATIC MUTATION; STEREOTYPY; GENETICS;

CADHERINS; CHILD, PRESCHOOL; EPILEPSY; FEMALE; HUMANS; MALE; POINT MUTATION;

EID: 84960441123     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13295     Document Type: Article

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