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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
2000 1
2006 1
2008 1
2009 2
2010 3
2011 1
2013 2
2014 2
2015 2
2016 2
2017 1
2018 4
2019 1
2020 3
2021 8
2022 5
2023 8
2024 3

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42 results

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Page 1
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. ...These therapies have demonstrated reductions i …
Lennox-Gastaut syndrome (LGS), a childhood-onset severe developmental and epileptic encephalopathy (DEE), is an entity …
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955
PURPOSE: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. ...RESULTS: In accordance with previous observations, de novo heterozygo …
PURPOSE: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopath …
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
PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE-ALDH7A1 were reported to have developmental delay …
PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmaco …
A Practical Guide to the Treatment of Dravet Syndrome with Anti-Seizure Medication.
Strzelczyk A, Schubert-Bast S. Strzelczyk A, et al. CNS Drugs. 2022 Mar;36(3):217-237. doi: 10.1007/s40263-022-00898-1. Epub 2022 Feb 14. CNS Drugs. 2022. PMID: 35156171 Free PMC article.
Dravet syndrome is a severe developmental and epileptic encephalopathy characterised by refractory seizures and cognitive dysfunction. ...Regular cardiac monitoring is also important with FFA as it has previously been associated with cases of cardiac valve di …
Dravet syndrome is a severe developmental and epileptic encephalopathy characterised by refractory seizures and cogniti …
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 …
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P. Le Roux M, et al. Eur J Paediatr Neurol. 2021 Jul;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Epub 2021 May 26. Eur J Paediatr Neurol. 2021. PMID: 34102571 Free article.
CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inheri …
CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), …
Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.
McTague A, Martland T, Appleton R. McTague A, et al. Cochrane Database Syst Rev. 2018 Jan 10;1(1):CD001905. doi: 10.1002/14651858.CD001905.pub3. Cochrane Database Syst Rev. 2018. PMID: 29320603 Free PMC article. Review.
SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group's Specialised Register (23 May 2017), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 23 May 2017), MEDLINE (Ovid, 1946 to 23 May 2 …
SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group's Specialised Register (23 May 2017), the Cochrane Cent …
Treatment of infantile spasms.
Hancock EC, Osborne JP, Edwards SW. Hancock EC, et al. Cochrane Database Syst Rev. 2013 Jun 5;(6):CD001770. doi: 10.1002/14651858.CD001770.pub3. Cochrane Database Syst Rev. 2013. PMID: 23740534 Review.
BACKGROUND: Infantile spasms (West's Syndrome) is a syndrome that includes a peculiar type of epileptic seizure-the spasms-and an electroencephalographic (EEG) abnormality often called hypsarrhythmia. ...OBJECTIVES: To compare the effects of single pharmaceutical therap …
BACKGROUND: Infantile spasms (West's Syndrome) is a syndrome that includes a peculiar type of epileptic seizure-the spasms-and an ele …
IFCN-endorsed practical guidelines for clinical magnetoencephalography (MEG).
Hari R, Baillet S, Barnes G, Burgess R, Forss N, Gross J, Hämäläinen M, Jensen O, Kakigi R, Mauguière F, Nakasato N, Puce A, Romani GL, Schnitzler A, Taulu S. Hari R, et al. Clin Neurophysiol. 2018 Aug;129(8):1720-1747. doi: 10.1016/j.clinph.2018.03.042. Epub 2018 Apr 17. Clin Neurophysiol. 2018. PMID: 29724661 Free PMC article. Review.
Yet, the established clinical indications for MEG examinations remain few, mainly restricted to the diagnostics of epilepsy and to preoperative functional evaluation of neurosurgical patients. We are confident that the extensive ongoing basic MEG research indicates potenti …
Yet, the established clinical indications for MEG examinations remain few, mainly restricted to the diagnostics of epilepsy and to pr …
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R, Criscione R, Cimino C, Pisani F, Ruggieri M. Falsaperla R, et al. Neuropediatrics. 2023 Oct;54(5):297-307. doi: 10.1055/a-2060-4576. Epub 2023 Mar 22. Neuropediatrics. 2023. PMID: 36948217
BACKGROUND: Autosomal dominant mutations of the KCNQ2 gene can cause two epileptic disorders: benign familial neonatal seizures (BFNS) and developmental epileptic encephalopathy (DEE). ...Most of the DEE patients (95%) needed polytherapy for seizure co …
BACKGROUND: Autosomal dominant mutations of the KCNQ2 gene can cause two epileptic disorders: benign familial neonatal seizures (BFNS …
42 results