Are c.436G>A mutations less severe forms of Lafora disease? A case report

Epilepsy and Behavior Case Reports

Volumn 2, Issue 1, 2014, Pages 19-21

  Lanoiselée, Hélène Marie ^a   Genton, Pierre ^b,c   Lesca, Gaetan ^d,e   Brault, Florence ^a   De Toffol, Bertrand ^a  

^a UNIVERSITY HOSPITAL OF TOURS   (France)

^b CENTRE SAINT PAUL   (France)

^c INSERM   (France)

^d HOSPICES CIVILS DE LYON   (France)

^e UNIVERSITÉ LYON 1   (France)

Author keywords

EPM2A; EPM2B; Lafora disease; NHLRC1; Progressive myoclonic epilepsy

Indexed keywords

CLOBAZAM; LAMOTRIGINE; ALANINE; ASPARAGINE; ASPARTIC ACID; ETIRACETAM; GLYCINE; ZONISAMIDE;

ADULT; ANOMIC APHASIA; APHASIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; CONSANGUINEOUS MARRIAGE; DISEASE ACTIVITY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE EXACERBATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FEMALE; FRONTAL CORTEX LESION; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; MEDICAL HISTORY; MEMORY DISORDER; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MYOCLONUS EPILEPSY; NEUROPSYCHOLOGICAL TEST; NHLRC1 GENE; ONSET AGE; PATIENT ASSESSMENT; PRIORITY JOURNAL; SPIKE WAVE; SYNDROME; TONIC CLONIC SEIZURE; AMINO ACID SUBSTITUTION; DOSE RESPONSE; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; YOUNG ADULT;

EID: 84892733135     PISSN: 22133232     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ebcr.2013.11.003     Document Type: Article

References (12)

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