Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease-Reference-Cited by-同舟云学术

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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

Published:2022-05-10 Issue:7 Volume:63 Page:
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Leal‐Pardinas Fernanda¹,Truty Rebecca²,McKnight Dianalee A.²,Johnson Britt²,Morales Ana²,Bristow Sara L.²^ORCID,Yar Pang Tiffany¹,Cohen‐Pfeffer Jessica¹,Izzo Emanuela¹,Sankar Raman³,Koh Sookyong⁴,Wirrell Elaine C.⁵^ORCID,Millichap John J.⁶^ORCID,Aradhya Swaroop²^ORCID

Affiliation:

1. BioMarin Pharmaceutical, Inc Novato California USA

2. Invitae San Francisco California USA

3. David Geffen School of Medicine at University of California, Los Angeles Los Angeles California USA

4. University of Nebraska Medical Center Omaha Nebraska USA

5. Mayo Clinic Rochester Minnesota USA

6. Northwestern University Feinberg School of Medicine Chicago Illinois USA

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17269

Reference18 articles.

1. Therapeutic landscape for Batten disease: current treatments and future prospects

2. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

3. The Neuronal Ceroid Lipofuscinoses (Batten Disease)

4. Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders

5. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

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1. Free genetic testing is not free of clinical and ethical considerations;Canadian Medical Association Journal;2024-07-28

2. Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience;Journal of Personalized Medicine;2024-07-24

3. A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease;Arquivos de Neuro-Psiquiatria;2024-05

4. Yield and Utility of Routine Epilepsy Panel Genetic Testing Among Young Patients With Seizures;Journal of Child Neurology;2024-03

5. Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa;Molecular Genetics and Metabolism Reports;2024-03

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