Found: 14
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Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.559080
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- Publication type:
- Article
CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.
- Published in:
- CNS Neuroscience & Therapeutics, 2021, v. 27, n. 10, p. 1146, doi. 10.1111/cns.13692
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- Publication type:
- Article
Heterozygous variants in USP25 cause genetic generalized epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3442, doi. 10.1093/brain/awae191
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- Publication type:
- Article
UNC13B variants associated with partial epilepsy with favourable outcome.
- Published in:
- 2021
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- Publication type:
- journal article
CELSR1 variants are associated with partial epilepsy of childhood.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2022, v. 189, n. 7/8, p. 247, doi. 10.1002/ajmg.b.32916
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- Publication type:
- Article
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s11689-018-9229-x
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- Publication type:
- Article
Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism.
- Published in:
- Molecular Brain, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13041-020-00612-6
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- Publication type:
- Article
RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fnins.2021.629610
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- Publication type:
- Article
Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.825390
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- Publication type:
- Article
SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.862480
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- Publication type:
- Article
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.860662
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- Publication type:
- Article
GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.
- Published in:
- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.720984
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- Publication type:
- Article
<italic>ARHGEF9</italic> mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
- Published in:
- Neurogenetics, 2018, v. 19, n. 1, p. 9, doi. 10.1007/s10048-017-0528-2
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- Publication type:
- Article
NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.
- Published in:
- Molecular Neurobiology, 2024, v. 61, n. 11, p. 8518, doi. 10.1007/s12035-024-04123-6
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- Publication type:
- Article