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Psychobehavioural and Cognitive Adverse Events of Anti-Seizure Medications for the Treatment of Developmental and Epileptic Encephalopathies.
Strzelczyk A, Schubert-Bast S. Strzelczyk A, et al. CNS Drugs. 2022 Oct;36(10):1079-1111. doi: 10.1007/s40263-022-00955-9. Epub 2022 Oct 4. CNS Drugs. 2022. PMID: 36194365 Free PMC article. Review.
The developmental and epileptic encephalopathies encompass a group of rare syndromes characterised by severe drug-resistant epilepsy with onset in childhood and significant neurodevelopmental comorbidities. ...Classical examples of developmental
The developmental and epileptic encephalopathies encompass a group of rare syndromes characterised by severe drug-resis …
SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders.
Talwar D, Hammer MF. Talwar D, et al. Pediatr Neurol. 2021 Sep;122:76-83. doi: 10.1016/j.pediatrneurol.2021.06.011. Epub 2021 Aug 3. Pediatr Neurol. 2021. PMID: 34353676 Review.
Genetic testing has revolutionized the diagnosis and treatment of neurological diseases in children. Whole-genome and whole-exome sequencing have particularly been useful in understanding the genetic basis of childhood epileptic encephalopathies characterized …
Genetic testing has revolutionized the diagnosis and treatment of neurological diseases in children. Whole-genome and whole-exome seq …
Expanding the Treatment Landscape for Lennox-Gastaut Syndrome: Current and Future Strategies.
Strzelczyk A, Schubert-Bast S. Strzelczyk A, et al. CNS Drugs. 2021 Jan;35(1):61-83. doi: 10.1007/s40263-020-00784-8. Epub 2021 Jan 21. CNS Drugs. 2021. PMID: 33479851 Free PMC article. Review.
Lennox-Gastaut syndrome (LGS), a childhood-onset severe developmental and epileptic encephalopathy (DEE), is an entity that encompasses a heterogenous group of aetiologies, with no single genetic cause. ...Other treatments frequently used off-label include th …
Lennox-Gastaut syndrome (LGS), a childhood-onset severe developmental and epileptic encephalopathy (DEE), is an entity …
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
METHODS: Undiagnosed individuals with ATP1A3 variants were identified within the cohort of the Deciphering Developmental Disorders study with additional cases contributed by collaborators internationally. ...Neuropsychiatric diagnoses were reported in 16 (66.6%) ind …
METHODS: Undiagnosed individuals with ATP1A3 variants were identified within the cohort of the Deciphering Developmental Disorders st …
Metabolic features of the cell danger response.
Naviaux RK. Naviaux RK. Mitochondrion. 2014 May;16:7-17. doi: 10.1016/j.mito.2013.08.006. Epub 2013 Aug 24. Mitochondrion. 2014. PMID: 23981537 Free article. Review.
The systemic form of the CDR, and its magnified form, the purinergic life-threat response (PLTR), are under direct control by ancient pathways in the brain that are ultimately coordinated by centers in the brainstem. Chemosensory integration of whole body metabolism occurs …
The systemic form of the CDR, and its magnified form, the purinergic life-threat response (PLTR), are under direct control by ancient pathwa …
The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Cox DM, Butler MG. Cox DM, et al. Int J Mol Sci. 2015 Feb 13;16(2):4068-82. doi: 10.3390/ijms16024068. Int J Mol Sci. 2015. PMID: 25689425 Free PMC article. Review.
Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen. ...Review of clinical features fro …
Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and p …
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of alpha-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of alpha-aminoadipic semialdehyde …
The burden of illness in Lennox-Gastaut syndrome: a systematic literature review.
Strzelczyk A, Zuberi SM, Striano P, Rosenow F, Schubert-Bast S. Strzelczyk A, et al. Orphanet J Rare Dis. 2023 Mar 1;18(1):42. doi: 10.1186/s13023-023-02626-4. Orphanet J Rare Dis. 2023. PMID: 36859290 Free PMC article. Review.
BACKGROUND: Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by drug-resistant epilepsy with multiple seizure types starting in childhood, a typical slow spike-wave pattern on electroencephalogram, and …
BACKGROUND: Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by drug- …
Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe.
Cardenal-Muñoz E, Auvin S, Villanueva V, Cross JH, Zuberi SM, Lagae L, Aibar JÁ. Cardenal-Muñoz E, et al. Epilepsia Open. 2022 Mar;7(1):11-26. doi: 10.1002/epi4.12569. Epub 2021 Dec 19. Epilepsia Open. 2022. PMID: 34882995 Free PMC article. Review.
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic encephalopathy affecting 1 in 16 000 live births and characterized by a drug-resistant epilepsy, cognitive, psychomotor, and language impairment, and behavioral diso …
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic encephalopathy affecting 1 in 16
A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality.
Sullivan J, Benítez A, Roth J, Andrews JS, Shah D, Butcher E, Jones A, Cross JH. Sullivan J, et al. Epilepsia. 2024 May;65(5):1240-1263. doi: 10.1111/epi.17866. Epub 2024 Jan 22. Epilepsia. 2024. PMID: 38252068 Review.
Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS) are rare developmental and epileptic encephalopathies associated with seizure and nonseizure symptoms. ...Here, we summarize and evaluate published data on the epidemiology of DS and LGS in terms of preva …
Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS) are rare developmental and epileptic encephalopathies associated …
81 results