Epileptic spasms are a feature of DEPDC5 mTORopathy

Neurology: Genetics

Volumn 1, Issue 2, 2015, Pages

  Carvill, Gemma L ^a   Crompton, Douglas E ^b,c   Regan, Brigid M ^b   McMahon, Jacinta M ^b   Saykally, Julia ^a   Zemel, Matthew ^a   Schneider, Amy L ^b   Dibbens, Leanne ^d   Howell, Katherine B ^e,f,g   Mandelstam, Simone ^b,f   Leventer, Richard J ^b,e,f,g   Harvey, A Simon ^b,e,f,g   Mullen, Saul A ^b,f   Berkovic, Samuel F ^b   Sullivan, Joseph ^h   Scheffer, Ingrid E ^b,e,f   Mefford, Heather C ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c NORTHERN HEALTH   (Australia)

^d UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

^f FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^g MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; CLINICAL OUTCOME; COHORT ANALYSIS; CORTICAL DYSPLASIA; DEPDC5 GENE; EPILEPSY; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCLE SPASM; MUTATOR GENE; PATIENT IDENTIFICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEGREGATION ANALYSIS;

EID: 84979668151     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000016     Document Type: Article

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