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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 13"
Page 1
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. ...Permanent neurologic features were common including microcephaly …
METHODS: Undiagnosed individuals with ATP1A3 variants were identified within the cohort of the Deciphering Developmental Disorders st …
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, Diver LA, Dorris L, Gardiner S, Jollands A, Joss S, Kirkpatrick M, McLellan A, MacLeod S, O'Regan M, Page M, Pilley E, Pilz DT, Stephen E, Stewart K, Ashrafian H, Knight JC, Zuberi SM. Symonds JD, et al. Brain. 2021 Oct 22;144(9):2879-2891. doi: 10.1093/brain/awab162. Brain. 2021. PMID: 34687210 Free PMC article.
The relationship between deprivation and incidence was only observed in the group without identified aetiology, suggesting that populations living in higher deprivation areas have greater multifactorial risk for epilepsy. ...Twenty-four months after presentation, 36 …
The relationship between deprivation and incidence was only observed in the group without identified aetiology, suggesting that popul …
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan JE, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Shore S, Agarwal A, Lock M, Farfel GM, Galer BS, Gammaitoni AR, Davis R, Gil-Nagel A. Knupp KG, et al. JAMA Neurol. 2022 Jun 1;79(6):554-564. doi: 10.1001/jamaneurol.2022.0829. JAMA Neurol. 2022. PMID: 35499850 Free PMC article. Clinical Trial.
IMPORTANCE: New treatment options are needed for patients with Lennox-Gastaut syndrome (LGS), a profoundly impairing, treatment-resistant, developmental and epileptic encephalopathy. OBJECTIVE: To evaluate the efficacy and safety of fenfluramine in patients w …
IMPORTANCE: New treatment options are needed for patients with Lennox-Gastaut syndrome (LGS), a profoundly impairing, treatment-resistant, …
Safety of Transcranial Direct Current Stimulation: Evidence Based Update 2016.
Bikson M, Grossman P, Thomas C, Zannou AL, Jiang J, Adnan T, Mourdoukoutas AP, Kronberg G, Truong D, Boggio P, Brunoni AR, Charvet L, Fregni F, Fritsch B, Gillick B, Hamilton RH, Hampstead BM, Jankord R, Kirton A, Knotkova H, Liebetanz D, Liu A, Loo C, Nitsche MA, Reis J, Richardson JD, Rotenberg A, Turkeltaub PE, Woods AJ. Bikson M, et al. Brain Stimul. 2016 Sep-Oct;9(5):641-661. doi: 10.1016/j.brs.2016.06.004. Epub 2016 Jun 15. Brain Stimul. 2016. PMID: 27372845 Free PMC article. Review.
Arbitrary safety considerations are avoided. Computational models are used to relate dose to brain exposure in humans and animals. We review relevant dose-response curves and dose metrics (e.g. current, duration, current density, charge, charge density) for meaningful safe …
Arbitrary safety considerations are avoided. Computational models are used to relate dose to brain exposure in humans and animals. We …
Different Clinical Expression of Anxiety Disorders in Children and Adolescents: Assessment and Treatment.
Pop-Jordanova N. Pop-Jordanova N. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2019 May 1;40(1):5-40. doi: 10.2478/prilozi-2019-0001. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2019. PMID: 31152643 Free article.
The difference between normal worry and an anxiety disorder is in the severity and in the interference with everyday life and normal developmental steps. Many longitudinal studies in children suggest that anxiety disorders are relatively stable over time and predict …
The difference between normal worry and an anxiety disorder is in the severity and in the interference with everyday life and normal deve …
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases and …
Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy …
Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.
Donnan AM, Schneider AL, Russ-Hall S, Churilov L, Scheffer IE. Donnan AM, et al. Neurology. 2023 Apr 18;100(16):e1712-e1722. doi: 10.1212/WNL.0000000000207080. Epub 2023 Feb 7. Neurology. 2023. PMID: 36750385 Free PMC article.
BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of severe epilepsy syndromes, with a wide phenotypic spectrum. Currently, the rates of convulsive status epilepticus (CSE), nonconvulsive …
BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of se …
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan J, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Agarwal A, Lock M, Dai D, Farfel GM, Galer BS, Gammaitoni AR, Polega S, Davis R, Gil-Nagel A. Knupp KG, et al. Epilepsia. 2023 Jan;64(1):139-151. doi: 10.1111/epi.17431. Epub 2022 Nov 9. Epilepsia. 2023. PMID: 36196777 Free PMC article. Clinical Trial.
The most frequent treatment-emergent adverse events were decreased appetite (16.2%) and fatigue (13.4%). No cases of valvular heart disease (VHD) or pulmonary arterial hypertension (PAH) were observed. SIGNIFICANCE: Patients with LGS experienced sustained reductions …
The most frequent treatment-emergent adverse events were decreased appetite (16.2%) and fatigue (13.4%). No cases of valvular heart d …
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 …
Intravenous immunoglobulin treatment in childhood encephalitis (IgNiTE): a randomised controlled trial.
Hill M, Iro M, Sadarangani M, Absoud M, Cantrell L, Chong K, Clark C, Easton A, Gray V, Kneen R, Lim M, Liu X, Pike M, Solomon T, Vincent A, Willis L, Yu LM, Pollard AJ; IgNiTE study team. Hill M, et al. BMJ Open. 2023 Nov 9;13(11):e072134. doi: 10.1136/bmjopen-2023-072134. BMJ Open. 2023. PMID: 37945292 Free PMC article. Clinical Trial.
MAIN OUTCOME MEASURE: The primary outcome was a 'good recovery' at 12 months after randomisation, defined as a score of2 on the Paediatric Glasgow Outcome Score Extended. SECONDARY OUTCOME MEASURES: The secondary outcomes were clinical, neurological, neuroimaging an …
MAIN OUTCOME MEASURE: The primary outcome was a 'good recovery' at 12 months after randomisation, defined as a score of2 on the Paedi …
278 results