Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene

Epilepsy and Behavior

Volumn 21, Issue 2, 2011, Pages 200-202

  Gökben, Sarenur ^a   Yilmaz, Sanem ^a   Klepper, Joerg ^b   Serdaroǧlu, Gül ^a   Tekgül, Hasan ^a  

^a EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b KLINIKUM ASCHAFFENBURG   (Germany)

Author keywords

GLUT 1; GLUT1DS; Myoclonic absence; R126C; SLC2A1 gene; Video electroencephalography

Indexed keywords

GLUCOSE TRANSPORTER 1; LACTIC ACID;

ARTICLE; CASE REPORT; CHILD; DRUG TREATMENT FAILURE; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPSY WITH MYOCLONIC ABSENCE; FEMALE; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME; HUMAN; HYPERVENTILATION; KETOGENIC DIET; LUMBAR PUNCTURE; METABOLIC DISORDER; MYOCLONUS; SCHOOL CHILD; SHIVERING; TENDON REFLEX; TURKEY (REPUBLIC); VIDEORECORDING;

ARGININE; CHILD; CYSTEINE; EPILEPSIES, MYOCLONIC; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MUTATION;

EID: 79958734434     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2011.03.027     Document Type: Article

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