Found: 12
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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
- Published in:
- Brain: A Journal of Neurology, 2022, v. 145, n. 8, p. 2704, doi. 10.1093/brain/awac117
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- Publication type:
- Article
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
- Published in:
- 2019
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- Publication type:
- journal article
A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.01040
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- Publication type:
- Article
The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1476, doi. 10.1002/humu.23632
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- Publication type:
- Article
Long-Term Safety, Tolerability, and Efficacy of Cannabidiol in Children with Refractory Epilepsy: Results from an Expanded Access Program in the US.
- Published in:
- 2019
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- Publication type:
- journal article
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2259, doi. 10.1002/ajmg.a.40472
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- Publication type:
- Article
Population‐based study of rare epilepsy incidence in a US urban population.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 8, p. 2341, doi. 10.1111/epi.18029
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- Publication type:
- Article
Creating rare epilepsy cohorts using keyword search in electronic health records.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 10, p. 2738, doi. 10.1111/epi.17725
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- Publication type:
- Article
Clinical utility of exome sequencing in a pediatric epilepsy cohort.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 4, p. 986, doi. 10.1111/epi.17534
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- Publication type:
- Article
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.
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- Epilepsia (Series 4), 2021, v. 62, n. 8, p. 1907, doi. 10.1111/epi.16957
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- Publication type:
- Article
Lack of response to quinidine in KCNT1‐related neonatal epilepsy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 10, p. 1889, doi. 10.1111/epi.14551
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- Publication type:
- Article
Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 12, p. 2019, doi. 10.1111/epi.13596
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- Publication type:
- Article