Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Human Mutation

Volumn 38, Issue 2, 2017, Pages 216-225

  Parrini, Elena ^a   Marini, Carla ^a   Mei, Davide ^a   Galuppi, Anna ^a   Cellini, Elena ^a   Pucatti, Daniela ^a   Chiti, Laura ^a   Rutigliano, Domenico ^a   Bianchini, Claudia ^a   Virdò, Simona ^a   De Vita, Dalila ^a   Bigoni, Stefania ^b   Barba, Carmen ^a   Mari, Francesco ^a   Montomoli, Martino ^a   Pisano, Tiziana ^a   Rosati, Anna ^a   Guerrini, Renzo ^a   Accorsi, Patrizia ^c   Ardissone, Anna ^d   Battaglia, Domenica ^e   Bertani, Gianna ^f   Borgarello, Gabriella ^g   Cesaroni, Elisabetta ^h   Chiari, Sara ^a   Cordelli, Duccio Maria ⁱ   Doccini, Viola ^a   Donati, Ilaria ^j   Fontana, Elena ^k   Fusco, Carlo ^f   Gentile, Mattia ^l   Giordano, Lucio ^c   Jacinto, Sandra ^m   Leuzzi, Vincenzo ⁿ   Mangano, Salvatore ^o   Mastrangelo, Mario ⁿ   Melani, Federico ^a   Obino, Laure ^p   Offer, Chiara ^c   Pruna, Dario ^q   Ragona, Francesca ^d   Ricciardelli, Paolo ^r   Salandin, Michela ^s   Saporoso, Antonino ^t   Sicca, Federico ^u   Specchio, Nicola ^v   Sterebova, Katalin ^w   more..

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY HOSPITAL OF FERRARA   (Italy)

^c SPEDALI CIVILI   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^f S MARIA NUOVA HOSPITAL   (Italy)

^g Terapia Intensiva Neonatale   (Italy)

^h OSPEDALI RIUNITI   (Italy)

ⁱ UNIVERSITY OF BOLOGNA   (Italy)

^j Laboratorio Ematologia AVR AUSL della Romagna   (Italy)

^k Policlinico GB Rossi   (Italy)

^l ASL BARI   (Italy)

^m Hospital de Dona Estef ania   (Italy)

ⁿ SAPIENZA UNIVERSITY OF ROME   (Italy)

^o UNIVERSITY OF PALERMO   (Italy)

^p Ospedale Beauregard   (Italy)

^q Child Neurology and Psychiatry Dept Pediatric Hospital   (Italy)

^r Ospedale per gli Infermi di Faenza   (Italy)

^s Ospedale di Bolzano   (Italy)

^t UNIVERSITY OF MESSINA   (Italy)

^u DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^v BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^w UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

more..

Author keywords

epilepsy; gene panel; mutation; next generation sequencing

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM CHANNEL CDKL5; POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL MECP2; POTASSIUM CHANNEL STXBP1; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.6; UNCLASSIFIED DRUG; ANTICONVULSIVE AGENT;

ADULT; ARTICLE; CHILD; DRUG RESISTANT EPILEPSY; EPILEPTIC STATE; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LANDAU KLEFFNER SYNDROME; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MYOCLONIC ASTATIC EPILEPSY; PATHOGENICITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; YOUNG ADULT; ADOLESCENT; ALLELE; BIOLOGY; DNA SEQUENCE; DRUG RESISTANCE; EPILEPSY; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INFANT; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PROCEDURES;

ADOLESCENT; AGE OF ONSET; ALLELES; ANTICONVULSANTS; CHILD; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; DRUG RESISTANCE; EPILEPSY; FEMALE; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE ANNOTATION; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 85006372419     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23149     Document Type: Article

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