Update on a no-cost epilepsy gene panel for seizure onset between 2 and 4 years of age: Results from 682 tests

Pang, Tiffany; Leal‐Pardinas, Fernanda; Bailey, Mitch; Koh, Sookyong; Millichap, J; Truty, Rebecca; Wirrell, Elaine; Aradhya, Swaroop

doi:10.1016/j.ymgme.2019.11.330

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“…The epilepsy panel covers genes for various etiologies of epilepsy, including the different forms of NCLs, bringing the possibility of an earlier diagnosis of CLN2. 34 In a cohort with 541 children presenting a first seizure from 2 years old, the NGS-based epilepsy panel diagnosed 21% of the population and identified 11 new cases of CLN2. 35 The NGS technique shows many advantages over the Sanger sequencing because it is time-saving and cost-effective, assessing multiple genes simultaneously.…”

Section: Diagnosismentioning

confidence: 99%

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

et al. 2023

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Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative genetic disease that affects children in early life. Its classic form is rapidly progressive, leading to death within the first 10 years. The urge for earlier diagnosis increases with the availability of enzyme replacement therapy. A panel of nine Brazilian child neurologists combined their expertise in CLN2 with evidence from the medical literature to establish a consensus to manage this disease in Brazil. They voted 92 questions including diagnosis, clinical manifestations, and treatment of the disease, considering the access to healthcare in this country. Clinicians should suspect CLN2 disease in any child, from 2 to 4 years old, with language delay and epilepsy. Even though the classic form is the most prevalent, atypical cases with different phenotypes can be found. Electroencephalogram, magnetic resonance imaging, molecular and biochemical testing are the main tools to investigate and confirm the diagnosis. However, we have limited access to molecular testing in Brazil, and rely on the support from the pharmaceutical industry. The management of CLN2 should involve a multidisciplinary team and focus on the quality of life of patients and on family support. Enzyme replacement therapy with Cerliponase α is an innovative treatment approved in Brazil since 2018; it delays functional decline and provides quality of life. Given the difficulties for the diagnosis and treatment of rare diseases in our public health system, the early diagnosis of CLN2 needs improvement as enzyme replacement therapy is available and modifies the prognosis of patients.

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Section: Diagnosismentioning

confidence: 99%

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

et al. 2023

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Update on a no-cost epilepsy gene panel for seizure onset between 2 and 4 years of age: Results from 682 tests

Cited by 1 publication

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Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

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Update on a no-cost epilepsy gene panel for seizure onset between 2 and 4 years of age: Results from 682 tests

Cited by 1 publication

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Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

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Update on a no-cost epilepsy gene panel for seizure onset between 2 and 4 years of age: Results from 682 tests