CLN2 Main - Paediatricseizures

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Uncover the underlying cause of the seizure. Paediatric epilepsies may be masking a neurodegenerative disease²

Some rapidly progressive neurodegenerative disorders present with subtle and non-specific symptoms, mimicking those observed in more common paediatric epilepsies. ⁷
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease/TPP1 deficiency) is one devastating genetic condition that often presents with new-onset unprovoked seizures between 2-4 years of age and/or language delay and/or motor disturbance/ataxia.^5,3
Genetic testing can help identify the aetiology of 100+ paediatric epilepsies with one test^. ⁴
Many genes are actionable: A prompt diagnosis can be essential to adopt precise disease management strategies.^6,7
If you have patients with seizures of unknown cause, no-cost genetic testing may be available in your country.⁷

Disclaimer

These no-cost testing programmes are sponsored by BioMarin for patients meeting the inclusion criteria. BioMarin does not have influence over testing procedures, nor does it have access to individual patient test results. Some URLS will direct the user to a third party website, which is not the property of BioMarin.

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Neuronal Ceroid Lipofuscinosis Type 2 (CLN2 Disease)

Learn more about CLN2 disease, one of the most common forms of NCLs.²

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Genetic Testing Publications

Fietz M et al. Diagnosis of neuronal ceroid lipofuscinosis 2: Expert recommendations…

Mei D et al. The Impact of Next-Generation Sequencing on the Diagnosis…

~ The reported data on percentage of epilepsies with genetic aetiology has a range according to country and publication from 14% -24.4% ⁶ to 50% ¹ to 70-80%.⁷

^ Number of genes tested in epilepsy panel may vary in each laboratory, ranging from few genes to over 400+ genes.

References:

Pal DK et al. Genetic evaluation and counselling for epilepsy. Nature Rev Neurology. 2010;6:445-453.
Mole SE and Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015;1852(10 Pt B): 2237-41.
Fietz M et al. Diagnosis of neuronal ceroid lipofuscinosis 2: Expert recommendations for early detection and laboratory studies. Mol Genet Metab. 2016; 119(1-2):160-167. 2,A,9.
Mei D, Parrini E, Marini C, Guerrini R. The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol Diagn Ther. 2017;21(4):357-373. doi:10.1007/s40291-017-0257-0.
Nickel M, Simonati A, Jacoby D. Disease characteristics and progression in patients with CLN2 disease: an observational cohort study. Lancet Child Adolesc Health. 2018;2(8):582-590.
Truty 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;4:397–408.
Amadori et al. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy. Italian Journal of Pediatrics. 2020; 46:92. https://doi.org/10.1186/s13052-020-00860-1

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This information is intended for healthcare professionals only.

BioMarin does not endorse any particular laboratory facility and is not responsible for the ultimate accuracy or validity of test results. In some locations, BioMarin works with laboratories to sponsor testing programs for certain eligible patients at reduced or no-cost. This is not a comprehensive list of laboratories who are capable of conducting a particular type of testing. Additional laboratories not listed here may be able to provide similar diagnostic services and there may also be additional no-cost testing programs available that are not included here.

The ordering health care provider is solely responsible for determining whether a particular test is appropriate for a patient and providing any informed consent and education regarding testing. Each sponsored testing program will have its own eligibility requirements and is subject to change or termination at any time. Please see the program websites for additional information on eligibility and how data generated from the testing program is used. BioMarin has no access to patient personal data throughout the diagnosis programs.

The information listed here was last updated from August 2020.

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Neuronal Ceroid Lipofuscinosis Type 2 (CLN2 Disease)

Genetic Testing Publications

References:

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