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

Year Number of Results
1979 1
1994 1
2000 2
2001 3
2002 1
2003 1
2005 1
2006 5
2007 1
2008 3
2009 5
2010 4
2011 3
2012 2
2013 4
2014 4
2015 7
2016 8
2017 8
2018 7
2019 10
2020 15
2021 29
2022 24
2023 26
2024 13

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154 results

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Page 1
Epilepsy and cannabidiol: a guide to treatment.
Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel; Collaborators. Arzimanoglou A, et al. Epileptic Disord. 2020 Feb 1;22(1):1-14. doi: 10.1684/epd.2020.1141. Epileptic Disord. 2020. PMID: 32096470 Free article. Review.
The growing interest in cannabidiol (CBD), specifically a pure form of CBD, as a treatment for epilepsy, among other conditions, is reflected in recent changes in legislation in some countries. ...This review aims to provide information to neurologists and epileptologists …
The growing interest in cannabidiol (CBD), specifically a pure form of CBD, as a treatment for epilepsy, among other conditions, is r …
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. ...In addition, knowledge gaps are identified which require further research in order to direc …
If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disabili …
Diagnosis, treatment, and prevention of cerebral palsy.
O'Shea TM. O'Shea TM. Clin Obstet Gynecol. 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. Clin Obstet Gynecol. 2008. PMID: 18981805 Free PMC article. Review.
Cerebral palsy is the most prevalent cause of persisting motor function impairment with a frequency of about 1/500 births. In developed countries, the prevalence rose after introduction of neonatal intensive care, but in the past decade, this trend has reversed. ... …
Cerebral palsy is the most prevalent cause of persisting motor function impairment with a frequency of about 1/500 births. In develop …
Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.
Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y. Mizuguchi M, et al. Brain Dev. 2021 Jan;43(1):2-31. doi: 10.1016/j.braindev.2020.08.001. Epub 2020 Aug 20. Brain Dev. 2021. PMID: 32829972 Review.
Acute encephalopathy consists of multiple syndromes such as acute necrotizing encephalopathy, acute encephalopathy with biphasic seizures and late reduced diffusion and clinically mild encephalitis/encephalopathy with reversible splenial lesion. ...In …
Acute encephalopathy consists of multiple syndromes such as acute necrotizing encephalopathy, acute encephalopathy with …
From Genetic Testing to Precision Medicine in Epilepsy.
Striano P, Minassian BA. Striano P, et al. Neurotherapeutics. 2020 Apr;17(2):609-615. doi: 10.1007/s13311-020-00835-4. Neurotherapeutics. 2020. PMID: 31981099 Free PMC article. Review.
The large number of different syndromes and seizure types as well as the highly variable inter-individual response to the therapies makes management of this condition often challenging. In the last two decades, a genetic etiology has been revealed in more than half of all …
The large number of different syndromes and seizure types as well as the highly variable inter-individual response to the therapies m …
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 …
Perinatal Stroke: A Practical Approach to Diagnosis and Management.
Srivastava R, Kirton A. Srivastava R, et al. Neoreviews. 2021 Mar;22(3):e163-e176. doi: 10.1542/neo.22-3-e163. Neoreviews. 2021. PMID: 33649089 Review.
Advances in neonatal neurocritical care may afford opportunity to minimize brain injury and improve outcomes. In the chronic timeframe, progress made in neuroimaging and brain mapping is revealing the developmental plasticity that occurs, informing new …
Advances in neonatal neurocritical care may afford opportunity to minimize brain injury and improve outcomes. In the chronic t …
Expert opinion: Proposed diagnostic and treatment algorithms for Lennox-Gastaut syndrome in adult patients.
Montouris G, Aboumatar S, Burdette D, Kothare S, Kuzniecky R, Rosenfeld W, Chung S. Montouris G, et al. Epilepsy Behav. 2020 Sep;110:107146. doi: 10.1016/j.yebeh.2020.107146. Epub 2020 Jun 18. Epilepsy Behav. 2020. PMID: 32563898 Free article. Review.
Lennox-Gastaut syndrome (LGS) is a severe developmental epileptic encephalopathy diagnosed in childhood that persists through adolescence and into adulthood. ...These algorithms should be frequently revisited to incorporate improved techniques and therapie …
Lennox-Gastaut syndrome (LGS) is a severe developmental epileptic encephalopathy diagnosed in childhood that persists t …
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jan… See abstract for full author list ➔ Johannesen KM, et al. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related to functional effects. Six different cli …
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, en …
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 …
154 results