Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene

Epilepsy Research

Volumn 99, Issue 1-2, 2012, Pages 187-190

  Pinto, Eugénia ^a   Freitas, Joel ^b   Duarte, Ana Joana ^a   Ribeiro, Isaura ^a   Ribeiro, Diogo ^a   Lima, J Lopes ^b   Chaves, João ^b   Amaral, Olga ^a  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b HOSPITAL DE SANTO ANTÓNIO   (Portugal)

Author keywords

Cystatin B mutation; Progressive myoclonus epilepsy; Silent mutation; Splice mutation; Unverricht Lundborg

Indexed keywords

ANTICONVULSIVE AGENT; CLONAZEPAM; CYSTATIN B; ETIRACETAM; PHENYTOIN; PIRACETAM; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE;

ADULT; ANAMNESIS; ARTICLE; ATAXIA; CASE REPORT; CYSTATIN B GENE; DISEASE EXACERBATION; DYSARTHRIA; DYSMETRIA; ELECTROENCEPHALOGRAM; GENE; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; INTRON; MALE; MYOCLONUS EPILEPSY; PORTUGAL; PRIORITY JOURNAL; VAGUS NERVE STIMULATION;

ADULT; CYSTATIN B; HOMOZYGOTE; HUMANS; MALE; MUTATION; PROTEIN ISOFORMS; UNVERRICHT-LUNDBORG SYNDROME;

EID: 84857921932     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2011.11.004     Document Type: Article

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