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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 …
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (100%), microcephaly (91%), limb rigidity (93%), and died prematurely (93%). ...In contrast, genotypes with at least one missense were more lik …
Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (10 …
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, …
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
DiBacco ML, Pop A, Salomons GS, Hanson E, Roullet JB, Gibson KM, Pearl PL. DiBacco ML, et al. Neurology. 2020 Nov 10;95(19):e2675-e2682. doi: 10.1212/WNL.0000000000010730. Epub 2020 Sep 4. Neurology. 2020. PMID: 32887777 Free PMC article.
There was a correlation with age and presence (p = 0.003) and severity (p = 0.002) of epilepsy and with obsessive-compulsive disorder (OCD) (p = 0.016). ...CONCLUSIONS: Seven novel pathogenic and one previously unpublished benign ALDH5A1 variants were detected. There is an …
There was a correlation with age and presence (p = 0.003) and severity (p = 0.002) of epilepsy and with obsessive-compulsive disorder …
Predictive Value of Thompson-Score for Long-Term Neurological and Cognitive Outcome in Term Newborns with Perinatal Asphyxia and Hypoxic-Ischemic Encephalopathy Undergoing Controlled Hypothermia Treatment.
Mendler MR, Mendler I, Hassan MA, Mayer B, Bode H, Hummler HD. Mendler MR, et al. Neonatology. 2018;114(4):341-347. doi: 10.1159/000490721. Epub 2018 Aug 21. Neonatology. 2018. PMID: 30130752
BACKGROUND: The so-called Thompson-score (TS) for newborns with hypoxic-ischemic encephalopathy (HIE) was developed before the introduction of controlled hypothermia as clinical routine. ...Secondary outcomes were motor outcomes, survival without relevant neurological impa …
BACKGROUND: The so-called Thompson-score (TS) for newborns with hypoxic-ischemic encephalopathy (HIE) was developed before the introd …
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC. de Kovel CGF, et al. JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714. JAMA Neurol. 2017. PMID: 28806457 Free PMC article.
Twenty-one of 25 patients (84%) had seizures, with 9 patients (36%) starting with epileptic spasms between 3 and 18 months of age. All patients had developmental delay, with 17 (65%) experiencing severe developmental delay; 14 (82%) with severe delay h …
Twenty-one of 25 patients (84%) had seizures, with 9 patients (36%) starting with epileptic spasms between 3 and 18 months of age. Al …
Infantile spasms in Down syndrome--effects of delayed anticonvulsive treatment.
Eisermann MM, DeLaRaillère A, Dellatolas G, Tozzi E, Nabbout R, Dulac O, Chiron C. Eisermann MM, et al. Epilepsy Res. 2003 Jun-Jul;55(1-2):21-7. doi: 10.1016/s0920-1211(03)00088-3. Epilepsy Res. 2003. PMID: 12948613
There was a statistically significant correlation between treatment lag and lag to cessation of spasms (R=0.55, P=0.02), developmental quotient (DQ) (R=-0.75, P=0.003), and score of autistic features (AF) (R=0.57, P=0.04). ...A long duration of spasms also determined a low …
There was a statistically significant correlation between treatment lag and lag to cessation of spasms (R=0.55, P=0.02), developmental …
Survival of individuals with cerebral palsy receiving continuous intrathecal baclofen treatment: a matched-cohort study.
Krach LE, Kriel RL, Day SM, Strauss DJ. Krach LE, et al. Dev Med Child Neurol. 2010 Jul;52(7):672-6. doi: 10.1111/j.1469-8749.2009.03473.x. Epub 2009 Oct 7. Dev Med Child Neurol. 2010. PMID: 19811519 Free article.
A comparison cohort was randomly selected from clients of the California Department of Developmental Services who were initially evaluated between 1987 and 1990 and were matched to those with ITB for age, sex, Gross Motor Function Classification System (GMFCS) level, prese …
A comparison cohort was randomly selected from clients of the California Department of Developmental Services who were initially eval …
Long-term efficacy of valproate versus lamotrigine in treatment of idiopathic generalized epilepsies in children and adolescents.
Mazurkiewicz-Bełdzińska M, Szmuda M, Matheisel A. Mazurkiewicz-Bełdzińska M, et al. Seizure. 2010 Apr;19(3):195-7. doi: 10.1016/j.seizure.2010.01.014. Epub 2010 Feb 18. Seizure. 2010. PMID: 20167512 Free article.
METHODS: Medical records of 214 children and adolescents suffering from IGE were analyzed. 132 of them were on VPA monotherapy, 82 on LTG. The majority of patients had juvenile myoclonic epilepsy - 98, the rest: juvenile absence epilepsy - 32, childhood absen …
METHODS: Medical records of 214 children and adolescents suffering from IGE were analyzed. 132 of them were on VPA monotherapy, 82 on …