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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 1"
Page 1
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) …
OBJECTIVE: Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines …
Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC. Veroniki AA, et al. BMJ Open. 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. BMJ Open. 2017. PMID: 28729328 Free PMC article. Review.
PRIMARY AND SECONDARY OUTCOME MEASURES: Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit hyperactivity disorder, language delay, neonatal seizures, psychomotor developmental delay and social impairment were secondary outcom …
PRIMARY AND SECONDARY OUTCOME MEASURES: Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit h …
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
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of alpha-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy …
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of alpha-aminoadipic semialdehyde …
Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.
Paprocka J, Kaminiów K, Yetkin O, Tekturk P, Baykan B, Leiz S, Kluger G, Striano P. Paprocka J, et al. Seizure. 2024 Mar;116:14-23. doi: 10.1016/j.seizure.2022.12.001. Epub 2022 Dec 8. Seizure. 2024. PMID: 36526544 Review.
The clinical aspects are variable due to the deletion size.Consistently, epilepsy is one of the major concerns for parents and professionals caring for children with WHS. ...The purpose of this systematic review is to briefly summarize achievements and advances in the fiel …
The clinical aspects are variable due to the deletion size.Consistently, epilepsy is one of the major concerns for parents and profes …
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.
We have made many comparisons of drugs and of routes of administration of drugs in this review; our key findings are as follows:(1) This review provides only low- to very low-quality evidence comparing buccal midazolam with rectal diazepam for the treatment of acute tonic- …
We have made many comparisons of drugs and of routes of administration of drugs in this review; our key findings are as follows:(1) T …
The burden of illness in Lennox-Gastaut syndrome: a systematic literature review.
Strzelczyk A, Zuberi SM, Striano P, Rosenow F, Schubert-Bast S. Strzelczyk A, et al. Orphanet J Rare Dis. 2023 Mar 1;18(1):42. doi: 10.1186/s13023-023-02626-4. Orphanet J Rare Dis. 2023. PMID: 36859290 Free PMC article. Review.
BACKGROUND: Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by drug-resistant epilepsy with multiple seizure types starting in childhood, a typical slow spike-wave pattern on electroencephalogram, and …
BACKGROUND: Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by drug- …
Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.
Lattanzi S, Trinka E, Russo E, Del Giovane C, Matricardi S, Meletti S, Striano P, Damavandi PT, Silvestrini M, Brigo F. Lattanzi S, et al. Drugs. 2023 Oct;83(15):1409-1424. doi: 10.1007/s40265-023-01936-y. Epub 2023 Sep 11. Drugs. 2023. PMID: 37695433 Free PMC article.
BACKGROUND: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by drug-resistant, lifelong seizures. ...RESULTS: Eight placebo-controlled trials were included, and the active add-on treatments were stiripentol (n = 2), p …
BACKGROUND: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by drug-resistant …
Epilepsy-related clinical characteristics and mortality: a systematic review and meta-analysis.
Nevalainen O, Ansakorpi H, Simola M, Raitanen J, Isojärvi J, Artama M, Auvinen A. Nevalainen O, et al. Neurology. 2014 Nov 18;83(21):1968-77. doi: 10.1212/WNL.0000000000001005. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339211 Review.
Among incident cases, idiopathic epilepsies did not associate with materially increased mortality (1.29, 0.75-2.20; 4 studies), whereas mortality was almost twofold in cryptogenic epilepsy (1.75, 1.20-2.54; 5 studies), and highly elevated in patients w …
Among incident cases, idiopathic epilepsies did not associate with materially increased mortality (1.29, 0.75-2.20; 4 studies), where …
Long-term intellectual and developmental outcomes after pediatric epilepsy surgery: A systematic review and meta-analysis.
Stefanos-Yakoub I, Wingeier K, Held U, Latal B, Wirrell E, Smith ML, Ramantani G. Stefanos-Yakoub I, et al. Epilepsia. 2024 Feb;65(2):251-265. doi: 10.1111/epi.17834. Epub 2023 Dec 9. Epilepsia. 2024. PMID: 38031640 Review.
Although the efficacy of surgical treatment for seizure control has been established, the long-term intellectual and developmental trajectories are yet to be delineated. We conducted a systematic review and meta-analysis of studies reporting pre- and postsurgical intellige …
Although the efficacy of surgical treatment for seizure control has been established, the long-term intellectual and developmental tr …
Graph theory in paediatric epilepsy: A systematic review.
Falsaperla R, Vitaliti G, Marino SD, Praticò AD, Mailo J, Spatuzza M, Cilio MR, Foti R, Ruggieri M. Falsaperla R, et al. Dialogues Clin Neurosci. 2022 Jun 1;23(1):3-13. doi: 10.1080/19585969.2022.2043128. eCollection 2021. Dialogues Clin Neurosci. 2022. PMID: 35860177 Free PMC article. Review.
Network science and graph theory methods may contribute to a better understanding of brain function, both normal and abnormal, throughout developmental stages. ...Neurological diseases with onset during critical stages of brain maturation, including ch …
Network science and graph theory methods may contribute to a better understanding of brain function, both normal and abnormal, throug …
57 results