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

Year Number of Results
2003 1
2006 1
2009 2
2012 2
2013 1
2014 2
2015 2
2016 1
2017 1
2018 3
2019 4
2020 4
2021 4
2022 6
2023 9
2024 2

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40 results

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Page 1
CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S. Leonard H, et al. Lancet Neurol. 2022 Jun;21(6):563-576. doi: 10.1016/S1474-4422(22)00035-7. Epub 2022 Apr 25. Lancet Neurol. 2022. PMID: 35483386 Free PMC article. Review.
Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. It is characterised by early-onset (generally within the first 2 months of life) seizures th …
Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmen …
Management of epilepsy in pregnancy: a report from the International League Against Epilepsy Task Force on Women and Pregnancy.
Tomson T, Battino D, Bromley R, Kochen S, Meador K, Pennell P, Thomas SV. Tomson T, et al. Epileptic Disord. 2019 Dec 1;21(6):497-517. doi: 10.1684/epd.2019.1105. Epileptic Disord. 2019. PMID: 31782407 Review.
The risks associated with use of antiepileptic drugs during pregnancy are a major concern for all women with epilepsy with childbearing potential. These risks have to be balanced against foetal and maternal risks associated with uncontrolled seizures. This report from the …
The risks associated with use of antiepileptic drugs during pregnancy are a major concern for all women with epilepsy with childbeari …
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 …
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). ...Autism spectrum disorder (ASD) and/or other neuropsychiatric …
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to pr …
Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications.
Brock DC, Abbott M, Reed L, Kammeyer R, Gibbons M, Angione K, Bernard TJ, Gaskell A, Demarest S. Brock DC, et al. Epilepsy Res. 2023 Jul;193:107167. doi: 10.1016/j.eplepsyres.2023.107167. Epub 2023 May 12. Epilepsy Res. 2023. PMID: 37230012
OBJECTIVE: There has been increasing utilization of genetic testing for pediatric epilepsy in recent years. Little systematic data is available examining how practice changes have impacted testing yields, diagnostic pace, incidence of variants of uncertain significance (VU …
OBJECTIVE: There has been increasing utilization of genetic testing for pediatric epilepsy in recent years. Little systematic data is …
Association of guideline publication and delays to treatment in pediatric status epilepticus.
Sánchez Fernández I, Abend NS, Amengual-Gual M, Anderson A, Arya R, Barcia Aguilar C, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Gaillard WD, Gaínza-Lein M, Glauser T, Goldstein J, Goodkin HP, Guerriero RM, Lai YC, McDonough T, Mikati MA, Morgan LA, Novotny E Jr, Payne E, Peariso K, Piantino J, Ostendorf A, Sands TT, Sannagowdara K, Tasker RC, Tchapyjnikov D, Topjian AA, Vasquez A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; pSERG. Sánchez Fernández I, et al. Neurology. 2020 Sep 1;95(9):e1222-e1235. doi: 10.1212/WNL.0000000000010174. Epub 2020 Jul 1. Neurology. 2020. PMID: 32611646 Free PMC article.
METHODS: We performed a retrospective analysis of a prospectively collected dataset from June 2011 to September 2019 on pediatric patients (1 month-21 years of age) with rSE. RESULTS: We studied 328 patients (56% male) with median (25th-75th percentile [p(25)-p(75)]) age o …
METHODS: We performed a retrospective analysis of a prospectively collected dataset from June 2011 to September 2019 on pediatric patients ( …
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
Mei D, Parrini E, Marini C, Guerrini R. Mei D, et al. Mol Diagn Ther. 2017 Aug;21(4):357-373. doi: 10.1007/s40291-017-0257-0. Mol Diagn Ther. 2017. PMID: 28197949 Review.
The cumulative information emerging from NGS studies is rapidly changing our comprehension of the relations between early-onset severe epilepsy and the associated neurological impairment, progressively delineating specific entities previously gathered under the umbrella de …
The cumulative information emerging from NGS studies is rapidly changing our comprehension of the relations between early-onset severe ep …
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
Kobayashi Y, Tohyama J, Takahashi Y, Goto T, Haginoya K, Inoue T, Kubota M, Fujita H, Honda R, Ito M, Kishimoto K, Nakamura K, Sakai Y, Takanashi JI, Tanaka M, Tanda K, Tominaga K, Yoshioka S, Kato M, Nakashima M, Saitsu H, Matsumoto N. Kobayashi Y, et al. Brain Dev. 2021 Apr;43(4):505-514. doi: 10.1016/j.braindev.2020.12.006. Epub 2021 Jan 9. Brain Dev. 2021. PMID: 33436160 Free article.
METHODS: We recruited patients with pathogenic or likely pathogenic CDKL5 variants from a cohort of approximately 1,100 Japanese patients with developmental and epileptic encephalopathies, who underwent genetic analysis. We retrospectively reviewed clinical, …
METHODS: We recruited patients with pathogenic or likely pathogenic CDKL5 variants from a cohort of approximately 1,100 Japanese patients wi …
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM, Weissensteiner T, Pereira C, Susnea I, Danquah BD, Morales Torres G, Rocha ME, Cozma C, Saravanakumar D, Mannepalli S, Kandaswamy KK, Di Bucchianico S, Zimmermann R, Rolfs A, Bauer P, Beetz C. Rus CM, et al. Orphanet J Rare Dis. 2022 May 3;17(1):179. doi: 10.1186/s13023-022-02288-8. Orphanet J Rare Dis. 2022. PMID: 35505348 Free PMC article.
Common manifestations include ataxia, seizures, vision impairment, and developmental regression. Because these are shared by other neurological diseases, identification of CLN6 genetic variants is imperative for early diagnosis. ...Variants with a high likelihood of …
Common manifestations include ataxia, seizures, vision impairment, and developmental regression. Because these are shared by other ne …
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.
Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, Cabal B, García-Morales I, Toledano R, Budke M, Beltran-Corbellini Á, Baldassari S, Coras R, Kobow K, Herrera DM, Del Barrio A, Dahl HA, Del Pino I, Baulac S, Blumcke I, Møller RS, Gil-Nagel A. Aledo-Serrano Á, et al. Neurotherapeutics. 2023 Sep;20(5):1294-1304. doi: 10.1007/s13311-023-01395-z. Epub 2023 Jun 6. Neurotherapeutics. 2023. PMID: 37278968 Free article.
MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encoding a UDP-galactose transp …
MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of th …
40 results