CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

Epilepsy Research

Volumn 87, Issue 1, 2009, Pages 25-30

  Nabbout, Rima ^a,b   Depienne, Christel ^b,c   Chipaux, Mathilde ^a,b   Girard, Benoit ^d   Souville, Isabelle ^d   Trouillard, Oriane ^b   Dulac, Olivier ^a,b   Chelly, Jamel ^b,d   Afenjar, Alexandra ^c,e   Héron, Delphine ^c   Leguern, Eric ^b,c   Beldjord, Cherif ^b,d   Bienvenu, Thierry ^b,d   Bahi Buisson, Nadia ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d Service de Neurologie pediatrique Hopital Trousseau APHP ^*  (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

CDKL5; Epileptic encephalopathy; SCN1A ARX; SMEI

Indexed keywords

ARISTALESS RELATED HOMEOBOX PROTEIN; CYCLIN DEPENDENT KINASE; HOMEODOMAIN PROTEIN; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL ALPHA SUBUNIT; X LINKED CYCLIN DEPENDENT KINASE LIKE 5;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; AUTISM; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DYSTONIA; EPILEPSY; EPILEPTOGENESIS; FAMILY HISTORY; FEBRILE CONVULSION; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INFANTILE SPASM; INTRACTABLE EPILEPSY; INTRON; MALE; MUTATIONAL ANALYSIS; MYOCLONUS; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SPASTICITY; TONIC CLONIC SEIZURE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; EPILEPSIES, MYOCLONIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MENTAL RETARDATION; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; SEIZURES, FEBRILE; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 70350375741     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2009.07.004     Document Type: Article

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