Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

Epilepsy Research

Volumn 111, Issue , 2015, Pages 72-77

  Poulat, Anne Lise ^a,b   Ville, Dorothée ^a,b   de Bellescize, Julitta ^a,b   André Obadia, Nathalie ^a,b   Cacciagli, Pierre ^b,c   Milh, Mathieu ^b,c,d   Villard, Laurent ^b,c   Lesca, Gaetan ^a,b,e  

^a HOSPICES CIVILS DE LYON   (France)

^b HÔPITAL NEUROLOGIQUE   (France)

^c AIX MARSEILLE UNIVERSITY   (France)

^d TIMONE HOSPITAL   (France)

^e UNIVERSITÉ LYON 1   (France)

Author keywords

FIME; Infantile; Myoclonic epilepsy; Myoclonus status; TBC1D24

Indexed keywords

ADENINE; BIOTIN; CARBAMAZEPINE; CLONAZEPAM; ETIRACETAM; GLUTAMIC ACID; GUANINE; LAMOTRIGINE; LYSINE; PHENOBARBITAL; PHENYTOIN; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; RIBOFLAVIN; THIAMINE; TOPIRAMATE; VALPROIC ACID; CARRIER PROTEIN; TBC1D24 PROTEIN, HUMAN;

ADD ON THERAPY; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINITY; DISABILITY SEVERITY; DISEASE SEVERITY; DRUG RESPONSE; ELECTROENCEPHALOGRAM; EPILEPSY; FAMILIAL INFANTILE MYOCLONIC EPILEPSY; FAMILY STUDY; FOCAL EPILEPSY; GENE; GENE SEQUENCE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; ITALIAN (CITIZEN); MALE; MISSENSE MUTATION; MYOCLONUS; MYOCLONUS EPILEPSY; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; OUTCOME ASSESSMENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REFLEX; SCHOOL CHILD; SEIZURE; SIBLING; TBC1D24 GENE; TONIC CLONIC SEIZURE; UNCONSCIOUSNESS; BRAIN; DRUG RESISTANCE; ELECTROENCEPHALOGRAPHY; FACE; GENETICS; HAND; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE;

BRAIN; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DRUG RESISTANCE; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FACE; HAND; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; PEDIGREE; SIBLINGS;

EID: 84924308872     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2015.01.008     Document Type: Article

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