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Epilepsy panel testing criteria: A clinical assessment.
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- Journal of Genetic Counseling, 2024, v. 33, n. 2, p. 352, doi. 10.1002/jgc4.1732
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- Article
Expressions of serum miR-146a and COX-2 in children with drug-resistant epilepsy and their correlation with prognosis.
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- Indian Journal of Experimental Biology, 2024, v. 62, n. 2, p. 140, doi. 10.56042/ijeb.v62i02.8410
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- Article
Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations.
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- Archives of Epilepsy, 2023, v. 29, n. 4, p. 121, doi. 10.4274/ArchEpilepsy.2023.23082
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- Article
Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.
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- Children, 2023, v. 10, n. 8, p. 1334, doi. 10.3390/children10081334
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- Article
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01474-z
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- Article
Familial Adult Myoclonic Epilepsy: Clinical and Genetic Approach to an Under-recognized Disease.
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- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2023, v. 60, n. 2, p. 174, doi. 10.29399/npa.28252
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- Article
Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors.
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- Journal of Genetic Counseling, 2023, v. 32, n. 2, p. 266, doi. 10.1002/jgc4.1646
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- Article
Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.
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- Children, 2023, v. 10, n. 3, p. 553, doi. 10.3390/children10030553
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- Article
Sleep slow-wave oscillations trigger seizures in a genetic epilepsy model of Dravet syndrome.
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- Brain Communications, 2023, v. 5, n. 1, p. 1, doi. 10.1093/braincomms/fcac332
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- Article
Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature.
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- Children, 2022, v. 9, n. 12, p. 1967, doi. 10.3390/children9121967
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- Article
SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.
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- Children, 2022, v. 9, n. 10, p. 1507, doi. 10.3390/children9101507
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- Article
Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study.
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- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01350-2
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- Article
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
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- Nutrients, 2022, v. 14, n. 17, p. 3605, doi. 10.3390/nu14173605
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- Article
Fumaric aciduria: A rare cause of refractory epilepsy.
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- 2022
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- Case Study
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
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- Internal Medicine Journal, 2022, v. 52, n. 7, p. 1174, doi. 10.1111/imj.15219
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- Article
RHOBTB2 Gene-related Developmental and Epileptic Encephalopathy.
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- Journal of Pediatric Neurosciences, 2022, v. 17, n. 2, p. 183, doi. 10.4103/jpn.JPN_66_21
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- Article
Different Prognostic Patterns in Epilepsies and Considerations About the Denotations of Atypical Patterns.
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- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2022, v. 59, n. 1, p. 68, doi. 10.29399/npa.27976
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- Article
Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital.
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- Journal of Central Nervous System Disease, 2022, p. 1, doi. 10.1177/11795735211060114
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- Article
Identificación de variantes en el gen EFHC2 en pacientes con epilepsia mioclónica juvenil clásica, mediante tamizaje con curvas de disociación de alta resolución (HRM) previo a la secuenciación Sanger.
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- Archivos de Neurociencias, 2022, v. 27, p. 11
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- Article
Two Cases of Lafora Disease Diagnosed By Genetical Tests.
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- Archives of Epilepsy, 2021, v. 27, n. 4, p. 249, doi. 10.14744/epilepsi.2021.28863
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- Article
Administration Of SCN1A Genetic Testing As A Pre-Prognostic Indicator in Early Onset Recurrent Febrile Seizures.
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- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2021, v. 15, n. 6, p. 476, doi. 10.12956/tchd.809273
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- Article
Analysis of Shared Genetic Regulatory Networks for Alzheimer's Disease and Epilepsy.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/6692974
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- Article
The dysfunctional gangway: SZT2-associated epilepsy with thick corpus callosum.
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- Journal of Pediatric Neurosciences, 2021, v. 16, n. 4, p. 289, doi. 10.4103/jpn.JPN_128_20
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- Article
CNNM2 heterozygous variant presenting as hypomagnesemia and west syndrome: Expanding the spectrum of CNNM2 gene-related epileptic disorders.
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- 2021
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- Case Study
A case of drug-resistant epilepsy associated with ring chromosome 20.
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- Annals of Indian Academy of Neurology, 2021, v. 24, n. 5, p. 805, doi. 10.4103/aian.AIAN_1292_20
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- Article
Control Charting Genomic Data.
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- Journal of Applied Laboratory Medicine, 2021, v. 6, n. 4, p. 892, doi. 10.1093/jalm/jfaa201
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- Article
Reflex Triggering Properties in Genetic Generalized and Focal Epilepsies by Questioning and Neuropsychological Electroencephalography Activation Methods.
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- Archives of Epilepsy, 2021, v. 27, n. 1, p. 52, doi. 10.14744/epilepsi.2020.21704
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- Article
Association of GRIN2A (rs387906637) Gene Polymorphism with Epilepsy Susceptibility.
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- Iraqi Journal of Science, 2021, v. 62, n. 1, p. 108, doi. 10.24996/ijs.2021.62.1.10
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- Publication type:
- Article
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00860-1
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- Article
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67215-y
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- Article
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 117, doi. 10.1111/jns.12368
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- Article
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
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- JAMA Network Open, 2020, v. 3, n. 4, p. e203812, doi. 10.1001/jamanetworkopen.2020.3812
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- Article
Apoptotic Markers Are Increased in Epilepsy Patients: A Relation with Manganese Superoxide Dismutase Ala16Val Polymorphism and Seizure Type through IL-1β and IL-6 Pathways.
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- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/6250429
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- Article
Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-0775-y
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- Article
Association of rs2651899 Polymorphism in the Positive Regulatory Domain 16 and Common Migraine Subtypes: A Meta‐Analysis.
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- Headache: The Journal of Head & Face Pain, 2020, v. 60, n. 1, p. 71, doi. 10.1111/head.13670
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- Article
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
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- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0755-2
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- Article
Six Clinical Predictors for Intractable Childhood Epilepsy.
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- Journal of Pediatric Research, 2019, v. 6, n. 3, p. 213, doi. 10.4274/jpr.galenos.2019.93276
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- Article
Advances in genetics of migraine.
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- Journal of Headache & Pain, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s10194-019-1017-9
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- Article
Crossing the Chloride Channel: The Current and Potential Therapeutic Value of the Neuronal K<sup>+</sup>-Cl<sup>-</sup> Cotransporter KCC2.
- Published in:
- BioMed Research International, 2019, p. 1, doi. 10.1155/2019/8941046
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- Publication type:
- Article
Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review.
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- Journal of Central Nervous System Disease, 2019, v. 11, p. N.PAG, doi. 10.1177/1179573519849938
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- Publication type:
- Article
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.
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- Epilepsia (Series 4), 2019, v. 60, n. 5, p. 797, doi. 10.1111/epi.14698
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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
SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.
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- European Journal of Clinical Pharmacology, 2019, v. 75, n. 5, p. 655, doi. 10.1007/s00228-019-02633-0
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- Article
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
- Published in:
- JAMA Network Open, 2019, p. e192129, doi. 10.1001/jamanetworkopen.2019.2129
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- Article
A Study on the Prevalance of Epilepsy in the Provincial Center of Erzurum.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2019, v. 25, n. 1, p. 7, doi. 10.4274/tnd.galenos.2018.72324
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- Article
Genetic study of epilepsy points to potential new therapies.
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- Pulse International, 2019, v. 20, n. 1, p. 12
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- Article
Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience.
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- Iranian Journal of Child Neurology, 2019, v. 13, n. 1, p. 115
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- Article
Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.
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- JAMA Pediatrics, 2019, v. 173, n. 1, p. e182302, doi. 10.1001/jamapediatrics.2018.2302
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- Publication type:
- Article
Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review.
- Published in:
- Journal of Central Nervous System Disease, 2019, v. 11, p. N.PAG, doi. 10.1177/1179573519849938
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- Publication type:
- Article
Possible epigenetic regulatory effect of dysregulated circular RNAs in epilepsy.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209829
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- Article