27 results on '"Developmental and Epileptic Encephalopathy"'
Search Results
2. Michael’s missed genetic diagnosis
3. Variants of TSC1 are associated with developmental and epileptic encephalopathy and focal epilepsy without tuberous sclerosis: For the China Epilepsy Gene 1.0 Project
4. Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol
5. Gnao1 is a molecular switch that regulates the Rho signaling pathway in differentiating neurons
6. Expanding the genotype-phenotype spectrum in SCN8A-related disorders
7. ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein
8. Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
9. The 2022 International League Against Epilepsy Classification and Definition of Childhood Epilepsy Syndromes: An Update for Pediatricians
10. Fenfluramine in clinical practice: new therapy option for Dravet and Lennox–Gastaut syndromes
11. Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
12. Lhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination
13. Clinical and functional study of two de novo variations of CDKL5 gene
14. Lennox-Gastaut Syndrome: Current Treatments, Novel Therapeutics, and Future Directions
15. D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery
16. Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report
17. Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids
18. The burden of illness in Lennox–Gastaut syndrome: a systematic literature review
19. Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice
20. Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report
21. Gene variations of glutamate metabolism pathway and epilepsy
22. L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants
23. Dravet syndrome—toward an optimal and disease-specific treatment
24. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
25. Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective
26. Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene
27. DHDDS-related epilepsy with hippocampal atrophy: a case report
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