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Voltage-Gated Na<sup>+</sup> Channel β1B: A Secreted Cell Adhesion Molecule Involved in Human Epilepsy.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 41, p. 14577, doi. 10.1523/JNEUROSCI.0361-11.2011
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- Publication type:
- Article
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
- Published in:
- 2022
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- Publication type:
- journal article
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
- Published in:
- 2019
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- Publication type:
- journal article
CACNA1H variants are not a cause of monogenic epilepsy.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1138, doi. 10.1002/humu.24017
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- Publication type:
- Article
Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1460, doi. 10.1002/ajmg.a.61553
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- Article
Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome.
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- Epilepsia (Series 4), 2017, v. 58, n. 8, p. e111, doi. 10.1111/epi.13811
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- Publication type:
- Article
Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 6, p. e103, doi. 10.1111/epi.13390
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- Publication type:
- Article