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X-linked neuronal migration disorders: Gender differences and insights for genetic screening.
Edey J, Soleimani-Nouri P, Dawson-Kavanagh A, Imran Azeem MS, Episkopou V. Edey J, et al. Int J Dev Neurosci. 2023 Nov;83(7):581-599. doi: 10.1002/jdn.10290. Epub 2023 Aug 13. Int J Dev Neurosci. 2023. PMID: 37574439 Review.
Neuronal migration disorders (NMDs) are conditions characterised by anatomical cortical defects leading to varying degrees of neurocognitive impairment, developmental delay and seizures. Refractory epilepsy affects 15 million people worldwide, and it is thought that …
Neuronal migration disorders (NMDs) are conditions characterised by anatomical cortical defects leading to varying degrees of neurocognitive …
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Lee S, Karp N, Zapata-Aldana E, Sadikovic B, Yang P, Balci TB, Prasad AN. Lee S, et al. Can J Neurol Sci. 2021 Mar;48(2):233-244. doi: 10.1017/cjn.2020.167. Epub 2020 Aug 3. Can J Neurol Sci. 2021. PMID: 32741404 Review.
BACKGROUND: Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy attending the Epilepsy Clinic at Children's Hospital, London, Ontario, Canada. ...RESULTS: In total, 105 children (52.38% male and 47 …
BACKGROUND: Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy …
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM, Weissensteiner T, Pereira C, Susnea I, Danquah BD, Morales Torres G, Rocha ME, Cozma C, Saravanakumar D, Mannepalli S, Kandaswamy KK, Di Bucchianico S, Zimmermann R, Rolfs A, Bauer P, Beetz C. Rus CM, et al. Orphanet J Rare Dis. 2022 May 3;17(1):179. doi: 10.1186/s13023-022-02288-8. Orphanet J Rare Dis. 2022. PMID: 35505348 Free PMC article.
Common manifestations include ataxia, seizures, vision impairment, and developmental regression. Because these are shared by other neurological diseases, identification of CLN6 genetic variants is imperative for early diagnosis. ...They comprised 86 late-infantile, …
Common manifestations include ataxia, seizures, vision impairment, and developmental regression. Because these are shared by other ne …
An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.
Du X, Wang J, Li S, Ma Y, Wang T, Wu B, Zhou Y, Yu L, Wang Y. Du X, et al. Genes (Basel). 2022 Aug 14;13(8):1447. doi: 10.3390/genes13081447. Genes (Basel). 2022. PMID: 36011358 Free PMC article.
The top three resources invested in caring for AS children are: daily involvement in patient care, rehabilitation cost, and anti-epileptic treatment. Our study showed the genetic composition of Chinese children with 83.02% of maternal deletions, and the mutat …
The top three resources invested in caring for AS children are: daily involvement in patient care, rehabilitation cost, and anti-e …
Epidemiology and management of insomnia in children with autistic spectrum disorders.
Miano S, Ferri R. Miano S, et al. Paediatr Drugs. 2010 Apr 1;12(2):75-84. doi: 10.2165/11316140-000000000-00000. Paediatr Drugs. 2010. PMID: 20218744 Review.
Moreover, few data about other less frequent sleep disorders, such as periodic limb movements disorder and obstructive sleep apnea syndrome, bruxism, and the influence of epilepsy and EEG abnormalities, are available. Both pharmacologic and behavioral interventions have be …
Moreover, few data about other less frequent sleep disorders, such as periodic limb movements disorder and obstructive sleep apnea syndrome, …
Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child.
Bromley R, Weston J, Adab N, Greenhalgh J, Sanniti A, McKay AJ, Tudur Smith C, Marson AG. Bromley R, et al. Cochrane Database Syst Rev. 2014 Oct 30;2014(10):CD010236. doi: 10.1002/14651858.CD010236.pub2. Cochrane Database Syst Rev. 2014. PMID: 25354543 Free PMC article. Review.
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials were selected for inclusion. Participants were women with epilepsy taking AED treatment; the two control groups were women without e …
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials we …
Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
Mao S, Yang L, Gao Y, Zou C. Mao S, et al. Clin Genet. 2024 Apr;105(4):415-422. doi: 10.1111/cge.14477. Epub 2024 Jan 23. Clin Genet. 2024. PMID: 38258470
A total of 586 PWS cases with confirmed molecular diagnosis and genotyping were included in this study. Among them, 83.8% belonged to the deletion type, 10.9% the uniparental disomy (UPD) type, and 5.3% the imprinting defect (ID) type. ...There are significant differences …
A total of 586 PWS cases with confirmed molecular diagnosis and genotyping were included in this study. Among them, 83.8% belonged to …
Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia.
Kilaru S, Bergqvist AGC. Kilaru S, et al. Epilepsia. 2007 Sep;48(9):1703-1707. doi: 10.1111/j.1528-1167.2007.01186.x. Epub 2007 Jul 25. Epilepsia. 2007. PMID: 17651420 Free article.
PURPOSE: Myoclonic astatic epilepsy (MAE) is a generalized epilepsy of early childhood. Little is known about the use of newer antiepileptic treatments (AET) in MAE. ...By 36 months after seizure onset, 67% achieved seizure freedom. At the last visit, 43% were de …
PURPOSE: Myoclonic astatic epilepsy (MAE) is a generalized epilepsy of early childhood. Little is known about the use of newer …
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 absence e …
METHODS: Medical records of 214 children and adolescents suffering from IGE were analyzed. 132 of them were on VPA monotherapy, 82 on LTG. T …