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Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.649556
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- Article
Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.607965
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- Article
Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.644447
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- Article
Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2 -Related Encephalopathy: A Case Report.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00911
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- Article
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.
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- Frontiers in Pharmacology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.599191
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- Article
Startle-Induced Epileptic Spasms: A Clinical and Video-EEG Study.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.878504
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- Article
The Clinical Features and Long-Term Follow-Up of Vitamin B6-Responsive Infantile Spasms in a Chinese Cohort.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.895978
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- Article
De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.733178
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- Article
Temporal Onset Focal Seizures Induced by Intermittent Photic Stimulation.
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- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.715236
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- Article
Efficacy of vigabatrin in the treatment of infantile epileptic spasms syndrome: A systematic review and meta‐analysis.
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- Epilepsia Open, 2023, v. 8, n. 2, p. 268, doi. 10.1002/epi4.12703
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- Publication type:
- Article
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1765, doi. 10.1093/hmg/ddac234
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- Article
Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.
- Published in:
- Frontiers in Neurology, 2022, v. 16, p. 01, doi. 10.3389/fneur.2022.907228
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- Article
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
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- Clinical Genetics, 2022, v. 101, n. 4, p. 459, doi. 10.1111/cge.14114
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- Article
Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).
- Published in:
- 2020
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- Publication type:
- journal article
Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.
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- Developmental Medicine & Child Neurology, 2022, v. 64, n. 1, p. 125, doi. 10.1111/dmcn.14976
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- Article
Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical features and underlying etiology of children with Lennox–Gastaut syndrome.
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- Journal of Neurology, 2024, v. 271, n. 8, p. 5392, doi. 10.1007/s00415-024-12465-3
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- Article
The relationship between the characteristics of burst suppression pattern and different etiologies in epilepsy.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95040-4
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- Article
A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1 , Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.804461
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- Article
Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability.
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- Human Mutation, 2022, v. 43, n. 3, p. 299, doi. 10.1002/humu.24329
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- Article