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Page 1
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 …
Genetic testing for the epilepsies: A systematic review.
Sheidley BR, Malinowski J, Bergner AL, Bier L, Gloss DS, Mu W, Mulhern MM, Partack EJ, Poduri A. Sheidley BR, et al. Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. Epub 2021 Dec 10. Epilepsia. 2022. PMID: 34893972
OBJECTIVE: Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines regarding optimal testing strategies. ...The only phenotypic factors that were significantly associated with increased yield were (1) the pr …
OBJECTIVE: Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines …
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually …
METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from …
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
For 43 (43% [binomial distribution 95% CI 33-53]) of 100 infants, we identified genetic diagnoses, with a median time from seizure onset to rapid genome sequencing result of 37 days (IQR 25-59). Genetic diagnosis was associated with neonatal seizure onset versus inf …
For 43 (43% [binomial distribution 95% CI 33-53]) of 100 infants, we identified genetic diagnoses, with a median time from sei …
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. ...Compared with females, males had lo …
METHODS: We recruited patients with pathogenic or likely pathogenic CDKL5 variants from a cohort of approximately 1,100 Japanese patients wi …
Current Approaches and Future Directions for the Treatment of mTORopathies.
Karalis V, Bateup HS. Karalis V, et al. Dev Neurosci. 2021;43(3-4):143-158. doi: 10.1159/000515672. Epub 2021 Apr 28. Dev Neurosci. 2021. PMID: 33910214 Free PMC article. Review.
An increased understanding of the neurobiology of mTOR and the underlying molecular, cellular, and circuit mechanisms of mTOR-related disorders will facilitate the development of improved therapeutics. Animal models of mTORopathies have helped unravel the consequences of m …
An increased understanding of the neurobiology of mTOR and the underlying molecular, cellular, and circuit mechanisms of mTOR-related disord …
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L, Calì F, Saccone S, Vinci M, Chiavetta NV, Carotenuto M, Roccella M, Costanza C, Elia M. Vetri L, et al. Int J Mol Sci. 2024 Jan 17;25(2):1146. doi: 10.3390/ijms25021146. Int J Mol Sci. 2024. PMID: 38256219 Free PMC article.
Developmental and epileptic encephalopathies (DEE) are severe neurodevelopmental disorders characterized by recurrent, usually early-onset, epileptic seizures accompanied by developmental impairment often related to both underlying genetic etiol …
Developmental and epileptic encephalopathies (DEE) are severe neurodevelopmental disorders characterized by recurrent, …
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A. Olson HE, et al. J Neurodev Disord. 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z. J Neurodev Disord. 2021. PMID: 34530725 Free PMC article.
BACKGROUND: CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. ...Epilepsy in this population is highly …
BACKGROUND: CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay …
Initial treatment of seizures in children in an emergency department in rural Japan.
Shiraki A, Yasui M, Kidokoro H, Kido S, Ando H, Takahashi Y, Natsume J. Shiraki A, et al. Brain Dev. 2021 Feb;43(2):288-293. doi: 10.1016/j.braindev.2020.08.004. Epub 2020 Sep 2. Brain Dev. 2021. PMID: 32888737
From the hospital database, we identified children who were diagnosed with seizures, epilepsy, or acute infectious encephalitis/encephalopathy or were given benzodiazepines. We considered etiology, seizure duration, and treatment according to the specialties of the …
From the hospital database, we identified children who were diagnosed with seizures, epilepsy, or acute infectious encephalitis/en …
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C. Gasser M, et al. J Clin Neurosci. 2020 Feb;72:31-38. doi: 10.1016/j.jocn.2020.01.041. Epub 2020 Jan 17. J Clin Neurosci. 2020. PMID: 31959558
Recently, it has become apparent that a remarkably large subgroup is suffering from often difficult-to-treat epilepsy. The aim of the present study was to assess the prevalence and efficacy of commonly used anti-epileptic-drugs (AEDs) in patients with ATP1A3 related …
Recently, it has become apparent that a remarkably large subgroup is suffering from often difficult-to-treat epilepsy. The aim of the …
19 results