SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Epilepsia

Volumn 50, Issue 7, 2009, Pages 1670-1678

  Marini, Carla ^a   Scheffer, Ingrid E ^c   Nabbout, Rima ^d   Mei, Davide ^a   Cox, Kathy ^b   Dibbens, Leanne M ^b,e   McMahon, Jacinta M ^c   Iona, Xenia ^b   Carpintero, Rochio Sanchez ^f   Elia, Maurizio ^g   Cilio, Maria Roberta ^h   Specchio, Nicola ^h   Giordano, Lucio ⁱ   Striano, Pasquale ^j   Gennaro, Elena ^k   Cross, J Helen ^l   Kivity, Sara ^m   Neufeld, Miriam Y ⁿ   Afawi, Zaid ⁿ   Andermann, Eva ^o   Keene, Daniel ^p   Dulac, Olivier ^d   Zara, Federico ^j   Berkovic, Samuel F ^c   Guerrini, Renzo ^a   Mulley, John C ^b,e,q   more..

^a UNIVERSITY OF FLORENCE   (Italy)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITY OF ADELAIDE   (Australia)

^f UNIVERSITY CLINIC OF NAVARRA   (Spain)

^g OASI RESEARCH INSTITUTE IRCCS   (Italy)

^h BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

ⁱ SPEDALI CIVILI   (Italy)

^j UNIVERSITY OF GENOA   (Italy)

^k GALLIERA HOSPITAL   (Italy)

^l GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^m SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

ⁿ TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^o MCGILL UNIVERSITY   (Canada)

^p CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^q UNIVERSITY OF ADELAIDE   (Australia)

more..

Author keywords

Array CGH; Deletion; Dravet syndrome; Duplication; Early onset severe epilepsy; Multiplex ligation dependent probe amplification; SCN1A

Indexed keywords

ARTICLE; CHILD; CHROMOSOME ABERRATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC VALUE; DRAVET SYNDROME; EPILEPSY; EXON; FEBRILE CONVULSION; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE NUMBER; GENERALIZED EPILEPSY; HUMAN; INFANT; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCNIA GENE; SIBLING; ADOLESCENT; ADULT; COMPARATIVE STUDY; DNA SEQUENCE; EPILEPSIES, MYOCLONIC; GENE AMPLIFICATION; GENETICS; MUTATION; NUCLEIC ACID AMPLIFICATION; SYNDROME;

NERVE PROTEIN; SCN1A PROTEIN, HUMAN; SODIUM CHANNEL; SODIUM CHANNEL NAV1.1;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EPILEPSIES, MYOCLONIC; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; HUMANS; INFANT; MALE; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NERVE TISSUE PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SODIUM CHANNELS; SYNDROME;

EID: 67649985908     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2009.02013.x     Document Type: Article

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