TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

Epilepsy Research

Volumn 105, Issue 1-2, 2013, Pages 240-244

  Afawi, Zaid ^a   Mandelstam, Simone ^b   Korczyn, Amos D ^a   Kivity, Sara ^c   Walid, Simri ^d   Shalata, Adel ^e   Oliver, Karen L ^f   Corbett, Mark ^g   Gecz, Jozef ^g,h   Berkovic, Samuel F ^f   Jackson, Graeme D ^b  

^a TEL AVIV UNIVERSITY   (Israel)

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

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

^d WESTERN GALILEE HOSPITAL   (Israel)

^e Ginatuna Association   (Israel)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^h UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Epilepsy; Focal seizures; Genetics; Intellectual disability; Malformation; TBC1D24

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; PHENYTOIN;

ADULT; ARTICLE; BRAIN MALFORMATION; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONVULSION; DEVELOPMENTAL COORDINATION DISORDER; DISEASE DURATION; DYSARTHRIA; EYELID REFLEX; FAMILY STUDY; FEMALE; FEVER; FOCAL EPILEPSY; GENE; GENE MUTATION; HAND TWITCHING; HIPPOCAMPAL SCLEROSIS; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SEIZURE; SIBLING; TBC1D24 GENE; TONGUE HYPESTHESIA; UNCONSCIOUSNESS;

ADULT; CARRIER PROTEINS; CEREBELLUM; CEREBRAL CORTEX; COGNITION DISORDERS; EPILEPSIES, PARTIAL; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 84878458379     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2013.02.005     Document Type: Article

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