Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact-Reference-Cited by-同舟云学术

Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact

Published:2022-10-05 Issue:2 Volume:31 Page:179-187
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Boonsimma Ponghatai,Ittiwut Chupong,Kamolvisit Wuttichart,Ittiwut Rungnapa^ORCID,Chetruengchai Wanna,Phokaew Chureerat,Srichonthong Chalurmpon,Poonmaksatit Sathida,Desudchit Tayard,Suphapeetiporn Kanya^ORCID,Shotelersuk Vorasuk^ORCID

Funder

Thailand Research Fund

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01202-x.pdf

Reference50 articles.

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2. Gaily E, Lommi M, Lapatto R, Lehesjoki AE. Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study. Epilepsia. 2016;57:1594–601.

3. Stödberg T, Tomson T, Barbaro M, Stranneheim H, Anderlid BM, Carlsson S, et al. Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study. Epilepsia. 2020;61:2486–99.

4. Laxer KD, Trinka E, Hirsch LJ, Cendes F, Langfitt J, Delanty N, et al. The consequences of refractory epilepsy and its treatment. Epilepsy Behav. 2014;37:59–70.

5. Eltze CM, Chong WK, Cox T, Whitney A, Cortina-Borja M, Chin RF, et al. A population-based study of newly diagnosed epilepsy in infants. Epilepsia. 2013;54:437–45.

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