Epilepsy
*= For these genes, an MLPA analysis may be performed as an additional diagnostic step.
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)
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 panel (#325): all genes in the panel