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Epilepsy

Disease/Condition(s): genetic epilepsy
What is Epilepsy?

Epilepsy is a neurological disorder marked by recurrent, unprovoked seizures due to abnormal electrical activity in the brain. These seizures can vary widely in form, ranging from brief lapses in attention or muscle jerks to severe and prolonged convulsions. Epilepsy can result from genetic factors, brain injury, stroke, tumors, infections, or developmental disorders, though in many cases, the exact cause remains unknown.

Epilepsy Sponsored Testing Program Overview:

Epilepsy (Australia)

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What is the role of testing for Epilepsy?

More than 50% of epilepsies have some genetic basis.

When a patient presents with seizures, genetic testing can help identify 100+ underlying genetic causes. Early genetic testing may be the most direct, cost-effective, and accurate diagnostic tool.1
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Delay can be devastating for patients with genetic epilepsy.

Some genetic epilepsies are neurodegenerative, and may initially present with subtle, non-specific symptoms like language development delay and/or motor disturbance. Genetic testing may help identify the cause of epilepsy before a patient experiences the hallmark signs of regression.2
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Genetic epilepsies may be hiding behind non-specific symptoms.

Language delay, motor disturbance, and intellectual impairment can proceed seizure onset and may be useful early indicators for molecular genetic testing.3,4

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Many genes are actionable.

Gene panels increasingly help tailor your approach-more than 30 genes have been linked to disease management strategies. Identifying a seizure’s underlying etiology can enable more precise disease management strategies.5

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What is the Program?

Invitae, BioMarin Pharmaceutical Australia Pty Ltd., Praxis Precision Medicines, and Xenon Pharmaceuticals Inc. have partnered to offer Invitae’s comprehensive Epilepsy Panel to any child 24-95 months of age who has had an unprovoked seizure.

Genetic testing may bring you closer to understanding what’s causing your patient’s epilepsy, helping your patients and their caregivers benefit from deeper knowledge and timely care.

Program Eligibility

To be eligible for this program, patients in Australia must meet the following criteria:

  • Any child 24-95 months of age who has had an unprovoked seizure.

Testing

How to participate

Choose between the following testing options:

Invitae

Invitae Epilepsy Panel

Genes Evaluated: ARHGEF15, CACNA1H, CERS1, FASN, GABRD, GUF1, IDH3A, JMJD1C, LMNB2, MOCS3, PIK3AP1, PRDM8, PRICKLE2, RBFOX1, RBFOX3, SCN5A, SNIP1, TUBA8, AARS, ABAT, ADAR, ADSL, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG13, ALG6, AMACR, AMT, AP2M1, AP3B2, ARG1, ARHGEF9, ARSA, ARX, ASAH1, ASNS, ATAD1, ATP1A1, ATP1A2, ATP1A3, ATP6AP2, ATP7A, ATRX, BRAT1, C12ORF57, CACNA1A, CACNA1B, CACNA1E, CACNA2D2, CAD, CAMK2B, CARS2, CASK, CCDC88A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLCN6, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLTC, CNTN2, CNTNAP2, COG5, COL18A1, CSTB, CTNNB1, CTSD, CYFIP2, CYP27A1, DDC, DDX3X, DEAF1, DENND5A, DEPDC5, DHDDS, DHFR, DIAPH1, DMXL2, DNAJC5, DNM1, DNM1L, DOCK7, DYNC1H1, DYRK1A, ECHS1, EEF1A2, EHMT1, EMC1, EPM2A, FAR1, FARS2, FBXO11, FGF12, FLNA, FOLR1, FOXG1, FOXP1, FRRS1L, GABBR2, GABRA1, GABRA2, GABRB1, GABRB2, GABRB3, GABRG2, GAMT, GATAD2B, GATM, GCH1, GLDC, GLRA1, GLRB, GNAO1, GNB1, GOSR2, GPAA1, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2D, GTPBP3, HCN1, HDAC8, HEXA, HNRNPU, IER3IP1, IFIH1, IQSEC2, ITPA, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD7, KIF1A, KIF2A, KIF5A, KPNA7, LAMC3, LGI1, LIAS, MBD5, MDH2, MECP2, MEF2C, MFSD8, MICAL1, MOCS1, MOCS2, MTOR, NACC1, NAGLU, NECAP1, NEDD4L, NEXMIF, NGLY1, NHLRC1, NPC1, NPC2, NPRL3, NRXN1, NTRK2, NUS1, PACS1, PACS2, PAFAH1B1, PCDH19, PCLO, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHGDH, PIGA, PIGB, PIGG, PIGN, PIGO, PIGP, PIGQ, PIGV, PIGW, PLAA, PLCB1, PNKD, PNKP, PNPO, PNPT1, POLG, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PRICKLE1, PRIMA1, PROSC, PRRT2, PSAP, PSAT1, PSPH, PTEN, PTPN23, PURA, QARS, QDPR, RAB11A, RAB11B, RAI1, RALA, RANBP2, RELN, RFT1, RHOBTB2, RNASEH2A, RNASEH2B, RNASEH2C, RNF13, ROGDI, RORB, RUSC2, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCP2, SERPINI1, SETBP1, SGCE, SGSH, SIK1, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A5, SLC6A8, SLC9A6, SMC1A, SNAP25, SNX27, SPATA5, SPTAN1, ST3GAL3, ST3GAL5, STAG2, STRADA, STX1B, STXBP1, STXBP2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TANGO2, TBC1D24, TBCK, TBL1XR1, TCF4, TH, TK2, TPK1, TREX1, TRIM8, TSC1, TSC2, TSFM, TUBB2A, UBA5, UBE3A, UNC80, WDR45, WWOX, YWHAG, ZDHHC9, ZEB2, ZSWIM6

How To Order

Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.

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More Information About This Program

  • Patients that meet the eligibility criteria may receive one test at no cost.
  • No patients, providers, and/or third-party payers (including commercial health plans and government health care programs) will be billed for the testing covered under the program.
  • The ordering physician will not receive any fees or other compensation in connection with the Sponsored Testing Program, such as for specimen collection, handling, or data reporting.
  • Patients meeting the above eligibility criteria, as well as their treating health care providers, are not required to order, purchase, prescribe, and/or obtain any other product or service from sponsor, the labs or any of their affiliates.
  • The performing labs reserve the right to rescind, revoke, or amend the program for any reason without notice.
  • Program is not valid where prohibited by law.
  • No identifiable patient data will be shared with sponsor as part of this program.

About BioMarin

Biomarin logo

Founded in 1997, BioMarin is a global biotechnology Company dedicated to transforming lives through genetic discovery. The Company develops and commercializes targeted therapies that address the root cause of the genetic conditions. BioMarin’s unparalleled research and development capabilities have resulted in eight transformational commercial therapies for patients with rare genetic disorders. The Company’s distinctive approach to drug discovery has produced a diverse pipeline of commercial, clinical, and pre-clinical candidates that address a significant unmet medical need, have well-understood biology, and provide an opportunity to be first-to-market or offer a substantial benefit over existing treatment options. For additional information, please visit www.biomarin.com.

About BRINEURA®

BRINEURA® (cerliponase alfa) is an enzyme replacement therapy developed by BioMarin Pharmaceutical Inc. for the treatment of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), a form of Batten disease. This rare, inherited disorder is caused by a deficiency of the enzyme tripeptidyl peptidase 1 (TPP1), leading to progressive neurological impairment. BRINEURA is administered directly into the cerebrospinal fluid via intraventricular infusion every two weeks. It is designed to slow the loss of walking ability in symptomatic pediatric patients aged 3 years and older. Clinical trials have demonstrated that BRINEURA can significantly delay disease progression, offering a crucial therapeutic option for affected children.

About Praxis Precision Medicines

Praxis Precision Medicines logo

Praxis Precision Medicines is a clinical-stage biopharmaceutical company translating insights from genetic epilepsies into the development of therapies for CNS disorders characterized by neuronal excitation-inhibition imbalance. Praxis is applying genetic insights to the discovery and development of therapies for rare and more prevalent neurological disorders through our proprietary small molecule platform, Cerebrum™, and antisense oligonucleotide (ASO) platform, Solidus™, using our understanding of shared biological targets and circuits in the brain. Praxis has established a diversified, multimodal CNS portfolio including multiple programs across movement disorders and epilepsy, with four clinical-stage product candidates. For more information, please visit www.praxismedicines.com and follow us on Facebook, LinkedIn and Twitter/X.

About Xenon Pharmaceuticals

Xenon Pharmaceuticals logo

Xenon Pharmaceuticals (Nasdaq:XENE) is a neuroscience-focused biopharmaceutical company committed to discovering, developing, and commercializing innovative therapeutics to improve the lives of people living with neurological and psychiatric disorders. We are advancing a novel product pipeline to address areas of high unmet medical need, including epilepsy and depression. For more information, please visit www.xenon-pharma.com.

References

1. Pal DK, et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-453.
2. Nickel M, et al. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: An observational cohort study. Lancet Child & Adolescent Health. 2018;2(8):582-90.
3. Miller N, Truty R, Bailey M, et al. Behind The Seizure™: A no-cost, 125-gene epilepsy panel for pediatric seizure onset between 2–4 years. Poster presented at the ACMG Annual Clinical Genetics Meeting; April 10–14, 2018; Charlotte, NC.
4. Truty R et al. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Epilepsia Open. 2019;10:28.

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