a- Background
Epilepsy is a common neurological disorder characterized by recurrent seizures. It has an estimated prevalence of about 0.08% and a lifetime cumulative incidence of about 3%.
Approximately 60% of epilepsy cases have no cause other than a genetic predisposition, while the rest are due to a major acquired cause.
However, the probability of a genetic cause of epilepsy is often underestimated in routine clinical practice. Thus, genetic testing can be useful in order to facilitate appropriate counseling. In some patients, it can also help guiding the treatment and predict the risk of being affected for asymptomatic relatives.
b- How does it work ?
c- To whom it is recommended?
d- Why choose this assay?
Test Benefits
Benefits of this test are:
Risk Management
Risk and treatment management includes, but is not limited to :
For ALDH7A1 related pyridoxine-dependent epilepsy and PNPO related pyridoxamine 5′-phosphate oxidase deficiency:
For KCNQ2 related early infantile epileptic encephalopathy / neonatal benign seizures:
For PRRT2 related infantile convulsions with paroxysmal choreoathetosis/ episodic kinesigenic dyskinesia / infantile benign seizures:
For SCN1A related Dravet syndrome / GEFSP2 / familial hemiplegic migraine:
For SLC2A1 related GLUT1 deficiency syndrome:
e– What is investigated?
Panel composition
Gene | MIM Gene | Related disease / Phenotype | MIM Phenotype |
ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | 266100 |
BMPR1A | 601299 | Juvenile polyposis syndrome | 174900 |
ALG13 | 300776 | Congenitale disorder of glycosylation, type IS | 300884 |
ARHGEF9 | 300429 | Epileptic encephalopathy, early infantile. 8 | 300607 |
CDKL5 | 300203 | Epileptic encephalopathy, early infantile. 2 | 300672 |
CHD2 | 602119 | Epileptic encephalopathy, childhood-onset | 615369 |
CPA6 | 609562 | Epilepsy, familial temporal lobe, 5 | 614417 |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci | 604364 |
GABRA1 | 137160 | Epileptic encephalopathy, early infantile. 19 | 615744 |
GABRB3 | 137192 | Epilepsy, childhood absence, susceptibility to. 5 | 612269 |
GABRD | 137163 | Epilepsy, idiopathic generalized, susceptibility to. 10 | 613060 |
GABRG2 | 137164 | Febrile seizures, familial. 8 | 611277 |
GNAO1 | 139311 | >Epileptic encephalopathy, early infantile. 19 | 615473 |
GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | 245570 |
HCN1 | 602780 | Epileptic encephalopathy, early infantile. 24 | 615871 |
HDAC4 | 605314 | Brachydactyly-mental retardation syndrome | 600430 |
IQSEC2 | 300522 | Mental retardation, X-linked 1 | 309530 |
KCNQ2 | 602235 | Seizures benign neonatal, 1/Epileptic encephalopathy, early infantile. 7 | 121200 613720 |
KCNQ3 | 602232 | Seizures benign neonatal, type 2 | 121201 |
KCNT1 | 608167 | Epilepsy nocturnal frontal lobe, 5/Epileptic encephalopathy, early infantile. 14 | 615005 614959 |
KCTD7 | 611725 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | 611726 |
LGI1 | 604619 | Epilepsy, familial temporal lobe, 1 | 600512 |
MBD5 | 611472 | Mental retardation, autosomal dominant 1 | 156200 |
PCDH19 | 300460 | Epileptic encephalopathy, early infantile. 9 | 300088 |
PLCB1 | 607120 | Epileptic encephalopathy, early infantile. 12 | 613722 |
PNPO | 603287 | Pyridoxamine 5′- phosphate oxidase deficiency | 610090 |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1/Seizures, Benign familial infantile, 2 | 128200 602066 |
SCN1A | 182389 | Dravet syndrome/Epilepsy, generalised, with febril seizures plus, type 2/Migraine, familia hemiplegic, 3 | 607208 604403 609634 |
SCN1B | 600235 | Epilepsy, generalised, with febril seizures plus, type 1 | 604233 |
SCN2A | 182390 | Epileptic encephalopathy, early infantile. 1/Seizures, Benign familial infantile, 3 | 613721 607745 |
SCN8A | 600702 | Epileptic encephalopathy, early infantile. 13 | 614558 |
SLC25A22 | 609302 | Epileptic encephalopathy, early infantile. 3 | 609304 |
SLC2A1 | 138140 | GLUT1 deficiency syndrome 1&2; Epilepsy, idiopathic generalized, susceptibility to, 12 | 606777 612126 614847 |
SLC35A3 | 605632 | Arthrogryposis, mental retardation, and seizures | 615553 |
SPTAN1 | 182810 | Epileptic encephalopathy, early infantile. 5 | 613477 |
STXBP1 | 602926 | Epileptic encephalopathy, early infantile. 4 | 612164 |
SYNGAP1 | 603384 | Mental retardation, autosomal dominant 5 | 612621 |
TBC1D24 | 613577 | Epileptic encephalopathy, early infantile. 16/Myoclonic epilepsy, infantile, familial | 615338 605021 |
Technical Details
Methodology
TAT
5-6 weeks in average. Urgent testing is available upon request.
Cost CHF 5’700—