SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG

Neuropediatrics

Volumn 46, Issue 4, 2015, Pages 287-291

  Von Stülpnagel, Celina ^a,b   Funke, Claudia ^c   Haberl, Caroline ^d   Hörtnagel, Konstanze ^c   Jüngling, Jerome ^c   Weber, Yvonne G ^e   Staudt, Martin ^a,f   Kluger, Gerhard ^a,b  

^a Hospital for Neuropediatrics and Neurological Rehabilitation   (Germany)

^b PARACELSUS MEDICAL UNIVERSITY   (Austria)

^c CEGAT GMBH   (Germany)

^d Praxis für Neuropädiatrie   (Germany)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

EEG normalization by eye opening; photosensitivity; SYNGAP1 new stop mutation

Indexed keywords

ETIRACETAM; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; SYNGAP1 PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID; SYNGAP1 PROTEIN, HUMAN;

ADOLESCENT; AGGRESSION; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; DROP ATTACK; ELECTROENCEPHALOGRAM; EXON; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC ANALYSIS; HUMAN; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; LEARNING DISORDER; MEMORY DISORDER; MONOTHERAPY; MYOCLONUS SEIZURE; OUTCOME ASSESSMENT; PHOTOSTIMULATION; PRIORITY JOURNAL; REVIEW; SIDE EFFECT; SLEEP; SPEECH THERAPY; TONIC CLONIC SEIZURE; BRAIN; COMPLICATION; EPILEPSIES, PARTIAL; EPILEPSY, GENERALIZED; GENETICS; MUTATION; PATHOPHYSIOLOGY;

ADOLESCENT; BRAIN; EPILEPSIES, PARTIAL; EPILEPSY, GENERALIZED; FEMALE; HUMANS; MUTATION; RAS GTPASE-ACTIVATING PROTEINS;

EID: 84937517003     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0035-1554098     Document Type: Review

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