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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 83"
Page 1
Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.
O'Callaghan FJ, Edwards SW, Alber FD, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay M, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP; participating investigators. O'Callaghan FJ, et al. Lancet Neurol. 2017 Jan;16(1):33-42. doi: 10.1016/S1474-4422(16)30294-0. Epub 2016 Nov 10. Lancet Neurol. 2017. PMID: 27838190 Free article. Clinical Trial.
BACKGROUND: Infantile spasms constitutes a severe infantile epilepsy syndrome that is difficult to treat and has a high morbidity. ...Block randomisation was stratified for hormonal treatment and risk of developmental impairment. Parents and clinicians were not mask …
BACKGROUND: Infantile spasms constitutes a severe infantile epilepsy syndrome that is difficult to treat and has a high morbidity. .. …
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P, Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Taglialatela M. Nappi P, et al. Pflugers Arch. 2020 Jul;472(7):881-898. doi: 10.1007/s00424-020-02404-2. Epub 2020 Jun 6. Pflugers Arch. 2020. PMID: 32506321 Review.
The developing brain is particularly susceptible to the potentially severe effects of epilepsy, and epilepsy, especially when refractory to medications, often results in a developmental and epileptic encephalopathy (DEE) with developme …
The developing brain is particularly susceptible to the potentially severe effects of epilepsy, and epilepsy, especiall …
Postoperative seizure and developmental outcomes of children with hemimegalencephaly and drug-resistant epilepsy.
Liu Q, Ma J, Yu G, Zhang Q, Zhu Y, Wang R, Yu H, Liu C, Sun Y, Wang W, Wang S, Ji T, Li M, Liu X, Jiang Y, Cai L, Wu Y. Liu Q, et al. Seizure. 2021 Nov;92:29-35. doi: 10.1016/j.seizure.2021.08.006. Epub 2021 Aug 14. Seizure. 2021. PMID: 34416421 Free article.
OBJECTIVE: To evaluate seizure and developmental outcomes in the short and long term in children with hemimegalencephaly (HMEG) after surgery. ...After surgery, the proportion of catch-up, stabilization, and regression in both short- and long-term DQ was approximately 40%, …
OBJECTIVE: To evaluate seizure and developmental outcomes in the short and long term in children with hemimegalencephaly (HMEG) after …
The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS. Howell KB, et al. Epilepsia. 2021 Feb;62(2):358-370. doi: 10.1111/epi.16810. Epub 2021 Jan 21. Epilepsia. 2021. PMID: 33475165
The incidence of epilepsy of infancy with migrating focal seizures (EIMFS) was 4.5/100 000 and of early infantile epileptic encephalopathy (EIEE) was 3.6/100 000. ...SIGNIFICANCE: Three quarters of severe epilepsies of infancy could be assigned an epilepsy …
The incidence of epilepsy of infancy with migrating focal seizures (EIMFS) was 4.5/100 000 and of early infantile epileptic …
The molecular and phenotypic spectrum of CLCN4-related epilepsy.
He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T. He H, et al. Epilepsia. 2021 Jun;62(6):1401-1415. doi: 10.1111/epi.16906. Epub 2021 May 5. Epilepsia. 2021. PMID: 33951195
Of 24 patients, 15 had epileptic encephalopathy and four died at an early age; 69.57% of patients had seizure onset within the first year of life. ...SIGNIFICANCE: Pathogenic CLCN4 variants contribute significantly to the genetic etiology of epilepsy. The phe …
Of 24 patients, 15 had epileptic encephalopathy and four died at an early age; 69.57% of patients had seizure onset within the …
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Jiang L, Bi S, Lin L, He F, Deng F. Jiang L, et al. Mol Genet Genomic Med. 2023 Dec;11(12):e2269. doi: 10.1002/mgg3.2269. Epub 2023 Aug 18. Mol Genet Genomic Med. 2023. PMID: 37593999 Free PMC article.
BACKGROUND: Early infantile epileptic encephalopathy (EIEE) is a group of highly heterogeneous diseases, both phenotypically and genetically. ...The average age at the first seizure was approximately 5 months. About 42% of children had developmental re …
BACKGROUND: Early infantile epileptic encephalopathy (EIEE) is a group of highly heterogeneous diseases, both phenotypi …
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S. Schröter J, et al. Eur J Hum Genet. 2022 Mar;30(3):298-306. doi: 10.1038/s41431-021-01027-0. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35017693 Free PMC article.
TUBA1A tubulinopathy is a rare neurodevelopmental disorder associated with brain malformations as well as early-onset and intractable epilepsy. ...Epilepsy was observed in 75% of the cases, which showed infantile onset in 83% and a refractory course in …
TUBA1A tubulinopathy is a rare neurodevelopmental disorder associated with brain malformations as well as early-onset and intractable …
Seizure control and developmental trajectories after hemispherotomy for refractory epilepsy in childhood and adolescence.
Ramantani G, Kadish NE, Brandt A, Strobl K, Stathi A, Wiegand G, Schubert-Bast S, Mayer H, Wagner K, Korinthenberg R, Stephani U, van Velthoven V, Zentner J, Schulze-Bonhage A, Bast T. Ramantani G, et al. Epilepsia. 2013 Jun;54(6):1046-55. doi: 10.1111/epi.12140. Epub 2013 Mar 18. Epilepsia. 2013. PMID: 23506137 Free article.
PURPOSE: To evaluate the seizure control and developmental outcomes after hemispherotomy for refractory epilepsy in childhood and to identify their predictive factors. METHODS: We retrospectively studied the clinical courses and outcomes of 52 children …
PURPOSE: To evaluate the seizure control and developmental outcomes after hemispherotomy for refractory epilepsy in childhood …
Predictors of outcome among 31 children with infantile spasms syndrome.
Kvernadze A, Tatishvili N, Lomidze G, Tarkhnishvili N, Kipiani T, Tatishvili S. Kvernadze A, et al. Epileptic Disord. 2022 Apr 1;24(2):359-372. doi: 10.1684/epd.2021.1397. Epileptic Disord. 2022. PMID: 34887239
OBJECTIVE: Infantile spasms syndrome is a severe epileptic encephalopathy. Management of infantile spasms remains challenging because of pharmacoresistant forms and relapsing seizures. ...SIGNIFICANCE: Our study reveals that age at onset of infantile spasms at less …
OBJECTIVE: Infantile spasms syndrome is a severe epileptic encephalopathy. Management of infantile spasms remains challenging …
Current medico-psycho-social conditions of patients with West syndrome in Japan.
Yoshitomi S, Hamano SI, Hayashi M, Sakuma H, Hirose S, Ishii A, Honda R, Ikeda A, Imai K, Jin K, Kada A, Kakita A, Kato M, Kawai K, Kawakami T, Kobayashi K, Matsuishi T, Matsuo T, Nabatame S, Okamoto N, Ito S, Okumura A, Saito A, Shiraishi H, Shirozu H, Saito T, Sugano H, Takahashi Y, Yamamoto H, Fukuyama T, Kuki I, Inoue Y. Yoshitomi S, et al. Epileptic Disord. 2021 Aug 1;23(4):579-589. doi: 10.1684/epd.2021.1301. Epileptic Disord. 2021. PMID: 34269179
The follow-up study revealed improved seizure status after two years in 66.7%, but worsened developmental status in 55.6%, with overall improvement in 51.9%. SIGNIFICANCE: The study reveals the challenging neurological, physical and developmental aspects, as well as …
The follow-up study revealed improved seizure status after two years in 66.7%, but worsened developmental status in 55.6%, with overa …
69 results