Epilepsy

*= For these genes, an MLPA analysis may be performed as an additional diagnostic step.

Idiopathic and familial epilepsy

Small panel (#364): most common familial epilepsy

DEPDC5, KCNQ2, KCNT1, PRRT2, SCN1A, SCN2A, SLC2A1
(7 genes, 25,6 kb)


Small panel (#365): Benign neonatal and early infantile epilepsy

KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A
(5 genes, 18,2 kb)


Large panel (#366): Focal epilepsy

CHRNA4, CHRNB2, DEPDC5, GRIN2A, KCNT1, LGI1, NPRL2, NPRL3, PCDH19, RELN
(10 genes, 34,6 kb)


Small panel (#367): GEFS+/generalised epilepsy with febrile seizures plus

CACNA1A, GABRA1, GABRB3, GABRG2, RORB, SCN1A, SCN1B,
SLC2A1, STX1B, TBC1D24

(10 genes, 24,0 kb)


Large panel (#368): Idiopathic and familial epilepsy

ALDH7A1, CACNA1A, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GABRA1, GABRB3, GABRG2, GRIN2A, KCNA1, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MTOR, NPRL2, NPRL3, PCDH19, PRRT2, RELN, RORB, SCN1A, SCN1B, SCN2A, SCN8A, SLC1A3, SLC2A1, STX1B, TBC1D24
(31 genes, 93,5 kb)

Developmental diseases with epilepsy (incl. epileptic encephalopathy)

Small panel (#369): epileptic encephalopathy, early infantile

FOXG1, KCNQ2, KCNT1, SCN1A, SCN2A, SCN8A, STXBP1
(7 genes, 25 kb)


Large panel (#370): epileptic encephalopathy, early infantile

CDKL5, FOXG1, KCNQ2, KCNT1, MECP2, PCDH19, SCN1A, SCN2A, SCN8A, STXBP1
(10 genes, 35,6 kb)


Small panel (#371): epileptic encephalopathy, early infantile with migrating focal seizures (EIMFS/MMPSI) 

KCNT1, PLCB1, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24
(7 genes, 25 kb)


Small panel (#372): Dravet syndrome and differential diagnoses

CHD2, GABRA1, HCN1, PCDH19, SCN1A, SCN2A, STXBP1
(7 genes, 25 kb)


Small panel (#373): (Early) paediatric epilepsy with myoclonic-atonic
seizures

CHD2, GABRA1, GABRB3, SCN1A, SCN2A, SLC2A1, SLC6A1, SYNGAP1
(8 genes, 25 kb)


Small panel (#374): Rett syndrome

CDKL5, FOXG1, MECP2, MEF2C
(4 genes, 7,5 kb)


Large panel (#375): Rett syndrome and differential diagnoses

CDKL5, FOXG1, GRIN2B, IQSEC2, KCNA2, KCNB1, MECP2, MEF2C, SMC1A, STXBP1, TCF4, WDR45
(12 genes, 29 kb)


Small panel (#324): Aicardi-Goutieres syndrome

ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1
(7 genese, 11,9 kb)


Large panel (#376): Developmental disorders with epilepsy

AARS, ALDH7A1, ALG13, AMT, ANKRD11, AP3B2, ARHGEF9, ARV1, ARX, BRAT1, CACNA1A, CACNA1E, CAD, CASK, CDKL5, CHD2, CLCN4, CNNM2, DDX3X, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FOXG1, FRRS1L, GABRA1, GRABRB1, GABRB2, GABRB3, GAMT, GLDC, GNAO1, GNB1, GRIN1, GRIN2A, GRIN2B, GRIN2D, HACE1, HCN1, HNRNPU, IQSEC2, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, MBD5, MBOAT7, MDH2, MECP2, MEF2C, MOCS1, MOCS2, NEXMIF, PACS2, PCDH19, PIGA, PLCB1, PLPBP, PNKP, PNPO, POLG, PURA, ROGDI, SCN1A, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22, SL2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TSC1*, TSC2*, UBA5, UBE3A, WDR45, WWOX, ZEB2
(95 genes, 262 kb)

Full epilepsy panel

Full panel (#325): all genes in the panel

Contact

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de

Request form

Epilepsy
Download 767 KB
Nach oben scrollen