EPILEPSY ✚ Childhood Epilepsy ✚ Brain Malformation ✚ Progressive Myoclonic Epilepsy 1 in 10 cases of epilepsy is believed to be hereditary.
A clear diagnosis is the first step.
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Epilepsy – a genetic perspective Epilepsy is a rather frequent neurological disorder with 1 in 100 affected. Approximately 10% of these will have a genetic background. Epilepsy is a disorder resulting from surges of electrical signals in the brain, causing recurring seizures. Seizure symptoms vary. Some people with epilepsy simply stare blankly for a few seconds during a seizure, while others have full-fledged convulsions.
About 2 in 100 people in experience an unprovoked seizure once in life. However, a solitary seizure is not indicative of epilepsy. At least two unprovoked seizures are generally required for an epilepsy diagnosis.
When to test? You should consider genetic testing if your patient has experienced two or more seizures. A seizure can take several forms: ✚ ✚ ✚ ✚
Temporary confusion A staring spell Uncontrollable jerking movements of arms and legs loss of consciousness or awareness
Seizures can be classified as either focal or generalized each has several subgroupings dependent on the etiology.
Progressive Myoclonic Epilepsy Panel (PME11) The table below shows the genes included in this panel. Gene/Locus
Gene/Locus MIM number
Phenotype MIM number
Phenotype
CSTB NHLRC1 EPM2A SCARB2 GOSR2 PRICKLE1 PRICKLE2 KCTD7 COL6A2 CERS1 CERS2
601145 608072 607566 602257 604027 608500 608501 611725 120240 606919 606920
254800 254780 254780 254900 614018 612437 612437
ULD Lafora Lafora PME PME PME PME PME PME PME PME
List of abbreviations: Lafora: Lafora Disease; PME: Progressive Myoclonic Epilepsy; ULD: Myoclonic epilepsy of Unverricht and Lundborg
Childhood Epilepsy Panel (CHE42) The table below shows the genes included in this panel. Gene/Locus
Gene/Locus MIM number
Phenotype MIM number
Phenotype
PRRT2 PNPO ALDH7A1 KCNQ3 KCNQ2 SCN2A CDKL5 KCTD7 ARHGEF9 CHD2 SYNGAP1 MBD5 STXBP1 SCN8A ALG13 HNRNPU GNAO1 SLC25A22 SLC35A3 IQSEC2
614386 603287 107323 602232 602235 182390 300203 611725 300429 602119 603384 611472 602926 600702 300776 602869 139311 609302 605632 300522
602066 610090 266100 121201 613720 613721 300672 611726 300607 615369 612621 156200 612164 614558 300884
PKD, PKD+BFIS, BFIS Pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy BFNC BFNC, EE BFNC, EE EE EE EE EE EE EE EE EE EE EE EE EE EE EE
615473 609304 615553 309530
Gene/Locus
Gene/Locus MIM number
Phenotype MIM number
Phenotype
GRIN1 HDAC4 GABBR1 GABBR2 HCN1 GABRB3 TBC1D24 PLCB1 SCN1A SCN1B GABRD GABRG2 GABRA1 PCDH19 SLC2A1 GRIN2A KCNT1 LGI1 DEPDC5 GRIN2B SPTAN1 CPA6
138249 605314 603540 607340 602780 137192 613577 607120 182389 600235 137163 137164 137160 300460 138140 138253 608167 604619 614191 138252 182810 609562
614254 600430
EE EE EE EE EE EE, FS, GEFS+ EE, MMPSI MMPSI Dravet, GEFS+ MMPSI Dravet, GEFS+ Dravet, GEFS+ Dravet, GEFS+ Dravet EFMR EOAE, GGE, PED Focal epilepsy, ESES Focal epilepsy, ADNFLE, MMPSI Focal epilepsy, ADLTE Focal epilepsy, FFEVF West, focal epilepsy West FFE
188890 612269 615338 613722 607208 604233 613060 611277 611136 300088 614847 245570 614959 600512 613970 613477 614417
Abbreviations for Childhood Epilepsy Panel (CHE40): ADLTE: Autosomal Dominant Lateral Temporal lobe Epilepsy ADNFLE: Autosomal Dominant Nocturnal Frontal lobe Epilepsy BFIS: Benign Familial Infantile Seizures BFNC: Benign Familial Neonatal Convulsions EE: Epileptic Encephalopathy EFMR: Epilepsy with Mental Retardation limited to Females EOAE: Early Onset Absence Epilepsy ESES: Electrical Status Epilepticus during Sleep
FFEVF: Familial Focal Epilepsy with Variable Foci GEFS+: Genetic Generalized Epilepsy with Febrile Seizures plus GGE: Genetic Generalized Epilepsy ICCA: PKD combined with infantile seizures MMPSI: Malignant Migrating Partial Seizures of Infancy PED: Paroxysmal Exertional Dyskinesia PKD: Paroxysmal Kinesigenic Dyskinesia
Brain Malformation Panel (BMF40) The table below shows the genes included in this panel. Gene/Locus
Gene/Locus MIM number
Phenotype MIM number
Phenotype
FLNA PAFAH1B1 DCX TUBA1A MEF2C ARX VLDLR ARFGEF2 RELN DYRK1A TUBB2B TUBG1
300017 601545 300121 602529 600662 300382 192977 605371 600514 600855 612850 191135
300049 607432 300067 611603 613443 308350 224050 608097 257320 614104 610031 615412
Periventricular nodular heterotopia
DYNC1H1 KIF2A KIF5C
600112 602591 604593
614563 615411 615282
Pachygyria
GPR56 COL4A1 EMX2 WDR62
604110 120130 600035 613583
606854 175780 269160 604317
Polymicrogyria
EOMES TUBA8
604615 605742
613180
Lissencephaly Lissencephaly, double cortex Lissencephaly Microcephaly, agenesis of the corpus callosum Lissencephaly Lissencephaly Periventricular nodular heterotopia Lissencephaly with cerebellar hypoplasia Severe microcephaly Polymicrogyria, symmetric or asymmetric Cortical dysplasia, complex, with other brain malformations Pachygyria, severe congenital microcephaly Severe microcephaly with other brain malformations Porencephaly 1 Schizencephaly Microcephaly with or without cortical malformations Microcephaly Polymicrogyria with optic nerve hypoplasia
Gene/Locus
Gene/Locus MIM number
Phenotype MIM number
TUBB3
602661
614039
Cortical dysplasia, complex, with other brain malformations
IER3IP1 PAX6 PIK3R2
609382 607108 603157
614231 106210 603387
Microcephaly with simplified gyration
PIK3CA AKT3
171834 611223
603387
OCLN
602876
ZEB2 SRPX2 HESX1 SHH SIX3 ZIC2 TGIF C6orf70 MBD5 MTOR TBC1D24 NDE1
605802 300642 601802 600725 603714 603073 602630 615532 156200 601231 613577 609449
235730 300643 182230 142945 157170 609637 142946 615544 156200
Phenotype
Polymicrogyria Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Hemimegalencephaly Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Band-like calcification with simplified gyration and polymicrogyria Mowat-Wilson syndrome Bilateral perisylvian polymicrogyria Septooptic dysplasia Holoprosencephaly Holoprosencephaly Holoprosencephaly Holoprosencephaly Periventricular nodular heterotopia Microcephaly Hemimegalencephaly
615338 614019
Cortical malformations Lissencephaly 4
Why use a genetic test? A genetic test is useful for both the medical doctor (MD) and the patient! It is a win-win. As MD you can use a genetic test to confirm the suspected diagnosis, making it possible to formulate a clear personal care plan for your patient. If a genetic test does not confirm your suspected diagnosis, you can wholeheartedly focus your efforts in another direction without detriment to the patient. A diagnosis helps the patient by providing piece of mind by answering the question “what’s wrong with me”. A diagnosis helps define the
best path forward for the patient and the family, with the possibility for significant improvement of health and quality of life for all affected.
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Skilled researchers totaling more than forty years of experience in genetics and genetic analysis.
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