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Early life seizures and epileptic spasms in STXBP1‐related disorders.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 3, p. 805, doi. 10.1111/epi.17886
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- Article
Delineating clinical and developmental outcomes in STXBP1-related disorders.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5182, doi. 10.1093/brain/awad287
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- Article
A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy.
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- Epilepsia (Series 4), 2023, v. 64, n. 10, p. 2818, doi. 10.1111/epi.17723
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- Article
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
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- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05298-9
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- Article
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
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- Briefings in Bioinformatics, 2023, v. 24, n. 5, p. 1, doi. 10.1093/bib/bbad284
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- Article
KCNC2 variants of uncertain significance are also associated to various forms of epilepsy.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1212079
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- Article
Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus.
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- Epilepsia (Series 4), 2023, v. 64, n. 6, p. 1444, doi. 10.1111/epi.17600
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- Article
A disease concept model for STXBP1‐related disorders.
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- Epilepsia Open, 2023, v. 8, n. 2, p. 320, doi. 10.1002/epi4.12688
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- Article
SCN1A gain‐of‐function mutation causing an early onset epileptic encephalopathy.
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- Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1318, doi. 10.1111/epi.17444
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- Article
Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.
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- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1161161
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- Article
Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID‐19 pandemic.
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- Developmental Medicine & Child Neurology, 2023, v. 65, n. 3, p. 406, doi. 10.1111/dmcn.15406
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- Article
Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.
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- Genes, 2023, v. 14, n. 2, p. 400, doi. 10.3390/genes14020400
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- Article
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.81032
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- Article
Visits of concern in child neurology telemedicine.
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- Developmental Medicine & Child Neurology, 2022, v. 64, n. 11, p. 1351, doi. 10.1111/dmcn.15256
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- Article
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.
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- Human Mutation, 2022, v. 43, n. 11, p. 1642, doi. 10.1002/humu.24389
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- Article
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.
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- Epilepsia (Series 4), 2022, v. 63, n. 10, p. 2461, doi. 10.1111/epi.17332
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- Article
Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies.
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- Developmental Medicine & Child Neurology, 2022, v. 64, n. 8, p. 957, doi. 10.1111/dmcn.15187
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- Article
Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.
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- Epilepsia (Series 4), 2022, v. 63, n. 8, p. 1970, doi. 10.1111/epi.17296
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- Article
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care.
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- 2022
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- Publication type:
- journal article
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01046-6
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- Article
Atypical development of Broca's area in a large family with inherited stuttering.
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- 2022
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- Publication type:
- journal article
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
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- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab245
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- Article
Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records.
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- Genes, 2021, v. 12, n. 8, p. 1159, doi. 10.3390/genes12081159
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- Article
Assessing seizure burden in pediatric epilepsy using an electronic medical record–based tool through a common data element approach.
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- Epilepsia (Series 4), 2021, v. 62, n. 7, p. 1617, doi. 10.1111/epi.16934
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- Article
Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.
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- Epilepsia (Series 4), 2021, v. 62, n. 6, p. 1293, doi. 10.1111/epi.16908
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- Article
The dose makes the poison—Novel insights into Dravet syndrome and SCN1A regulation through nonproductive splicing.
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- PLoS Genetics, 2021, v. 17, n. 1, p. 1, doi. 10.1371/journal.pgen.1009214
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- Article
Neue Erkenntnisse zur Qualitätssicherung von PP‐Faserbetonen am Beispiel des Straßentunnels Kriegsstraße.
- Published in:
- Beton- Und Stahlbetonbau, 2020, v. 115, n. 10, p. 801, doi. 10.1002/best.202000034
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- Article
Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1429, doi. 10.1002/acn3.51062
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- Publication type:
- Article
Early-onset genetic epilepsies reaching adult clinics.
- Published in:
- 2020
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- Publication type:
- letter
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.
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- Epilepsia (Series 4), 2019, v. 60, n. 6, p. e67, doi. 10.1111/epi.15665
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- Article
The spectrum of intermediate SCN8A‐related epilepsy.
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- Epilepsia (Series 4), 2019, v. 60, n. 5, p. 830, doi. 10.1111/epi.14705
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- Article
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
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- JAMA Network Open, 2019, p. e192129, doi. 10.1001/jamanetworkopen.2019.2129
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- 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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- Article
Reply to "Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria".
- Published in:
- 2018
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- Publication type:
- letter
Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics.
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- Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1138, doi. 10.1111/epi.14193
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- Article
Commentary: The genetic architecture of the epilepsies, as told by 8500 gene panels.
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- Epilepsia (Series 4), 2018, v. 59, n. 5, p. 1072, doi. 10.1111/epi.14075
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- Article
Genetic test utilization and diagnostic yield in adult patients with neurological disorders.
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- Neurogenetics, 2018, v. 19, n. 2, p. 105, doi. 10.1007/s10048-018-0544-x
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- Article
Mutations in SCN3A cause early infantile epileptic encephalopathy.
- Published in:
- 2018
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- Publication type:
- journal article
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
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- EMBO Molecular Medicine, 2017, v. 9, n. 12, p. 1764, doi. 10.15252/emmm.201708525
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- Article
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.
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- Journal of Neurology, 2017, v. 264, n. 7, p. 1421, doi. 10.1007/s00415-017-8539-3
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- Publication type:
- Article
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1119, doi. 10.1002/ajmg.a.38112
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- Article
Reply.
- Published in:
- 2017
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- Publication type:
- letter
Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.
- Published in:
- Current Neurology & Neuroscience Reports, 2017, v. 17, n. 2, p. 1, doi. 10.1007/s11910-017-0720-7
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- Publication type:
- Article
De novo GABRG2 mutations associated with epileptic encephalopathies.
- Published in:
- 2017
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- Publication type:
- journal article
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
- Published in:
- Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
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- Publication type:
- Article
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0509-9
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- Publication type:
- Article
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
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- 2016
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- Publication type:
- journal article
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 568, doi. 10.1002/mgg3.235
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- Article
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies.
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- Molecular Syndromology, 2016, v. 7, n. 4, p. 172, doi. 10.1159/000448530
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- Article
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 737, doi. 10.1002/humu.23006
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- Article