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Krankheit
Dravet-Syndrom
DRAVET SYNDROME
OMIM:
607208
Synonyme
frühkindliche Grand-mal-Epilepsie
SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI
Gen locations
CDKL5(OMIM
300203
)
CHD2(OMIM
602119
)
DOCK7(OMIM
615730
)
GABRG2(OMIM
137164
)
GRIN2A(OMIM
138253
)
HCN1(OMIM
602780
)
KCNT1(OMIM
608167
)
PNPO(OMIM
603287
)
SCN1A(OMIM
182389
)
SCN2A(OMIM
182390
)
SCN9A(OMIM
603415
)
STXBP1(OMIM
602926
)
SYNGAP1(OMIM
603384
)