Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency

Clinical Neurophysiology

Volumn 115, Issue 6, 2004, Pages 1417-1422

  Dervent, A ^a   Gibson, K M ^b   Pearl, P L ^c   Salomons, G S ^d   Jakobs, C ^d   Yalcinkaya, C ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c GEORGE WASHINGTON UNIVERSITY   (United States)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Absence; EEG; Epilepsy; Heterozygosity; Photosensitivity; Succinic semialdehyde dehydrogenase (SSADH) deficiency

Indexed keywords

4 AMINOBUTYRIC ACID; 4 HYDROXYBUTYRIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

ACIDURIA; ARTICLE; CASE REPORT; CHILD; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPTIC DISCHARGE; FAMILY; FAMILY HISTORY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MYOCLONUS; PATHOGENESIS; PATIENT; PHOTOSENSITIVE EPILEPSY; PRIORITY JOURNAL; SPIKE WAVE;

ADOLESCENT; ALDEHYDE OXIDOREDUCTASES; AMINO ACID METABOLISM, INBORN ERRORS; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FEMALE; HETEROZYGOTE; HUMANS; HYDROXYBUTYRATES; MALE; MUTATION; POLYMERASE CHAIN REACTION; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 2342594545     PISSN: 13882457     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinph.2004.01.002     Document Type: Article

References (23)

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