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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1357, doi. 10.1093/brain/awac330
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- Article
Engaging young scholars in science through publication: A survey analysis of published middle and high school authors.
- Published in:
- Learned Publishing, 2022, v. 35, n. 3, p. 321, doi. 10.1002/leap.1480
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- Article
The untapped potential of early career researchers in academic publishing: Lessons learned from the Journal of Emerging Investigators model.
- Published in:
- Learned Publishing, 2022, v. 35, n. 3, p. 393, doi. 10.1002/leap.1470
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- Article
Pathogenic in-Frame Variants in SCN8A : Expanding the Genetic Landscape of SCN8A- Associated Disease.
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- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.748415
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- Article
SLC6A1 variants identified in epilepsy patients reduce γ‐aminobutyric acid transport.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 9, p. e135, doi. 10.1111/epi.14531
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- Article