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IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P. Costa C, et al. Epilepsia. 2023 Aug;64(8):e164-e169. doi: 10.1111/epi.17557. Epub 2023 Mar 9. Epilepsia. 2023. PMID: 36810721
IRF2BPL belongs to the transcriptional regulators family and it is expressed in multiple human tissues, including the brain. Recently missense and nonsense mutations in IRF2BPL were found in patients presenting with developmental delay and epileptic enceph …
IRF2BPL belongs to the transcriptional regulators family and it is expressed in multiple human tissues, including the brain. Recently …
Prenatal diagnosis and intervention improve developmental outcomes and epilepsy prognosis in children with tuberous sclerosis complex.
Wang X, Ding Y, Zhou Y, Yu L, Zhou S, Wang Y, Wang J. Wang X, et al. Dev Med Child Neurol. 2022 Oct;64(10):1230-1236. doi: 10.1111/dmcn.15265. Epub 2022 May 25. Dev Med Child Neurol. 2022. PMID: 35612999 Free article.
AIM: To assess whether prenatal diagnosis and early intervention are beneficial for developmental outcomes and epilepsy prognosis in individuals with tuberous sclerosis complex (TSC). ...INTERPRETATION: Based on this study, we cautiously speculate that early postpar …
AIM: To assess whether prenatal diagnosis and early intervention are beneficial for developmental outcomes and epilepsy progno …
Scoping review and expert-based consensus recommendations for assessment and management of psychogenic non-epileptic (functional) seizures (PNES) in children: A report from the Pediatric Psychiatric Issues Task Force of the International League Against Epilepsy.
Reilly C, Jette N, Johnson EC, Kariuki SM, Meredith F, Wirrell E, Mula M, Smith ML, Walsh S, Fong CY, Wilmshurst JM, Kerr M, Valente K, Auvin S. Reilly C, et al. Epilepsia. 2023 Dec;64(12):3160-3195. doi: 10.1111/epi.17768. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37804168 Review.
Limited guidance exists regarding the assessment and management of psychogenic non-epileptic seizures (PNES) in children. Our aim was to develop consensus-based recommendations to fill this gap. The members of the International League Against Epilepsy (ILAE) Task Fo …
Limited guidance exists regarding the assessment and management of psychogenic non-epileptic seizures (PNES) in children. Our aim was …
Response to treatment and outcomes of infantile spasms in Down syndrome.
Harvey S, Allen NM, King MD, Lynch B, Lynch SA, O'Regan M, O'Rourke D, Shahwan A, Webb D, Gorman KM; Irish Paediatric Neurology Group. Harvey S, et al. Dev Med Child Neurol. 2022 Jun;64(6):780-788. doi: 10.1111/dmcn.15153. Epub 2022 Jan 29. Dev Med Child Neurol. 2022. PMID: 35092693 Free PMC article.
At follow-up (median age 23.7mo; IQR 13.4-40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within 60 days did not correlate with spasm cessation. ...INTERPRETATION: Prednisolone is an effective and well-tolerated medication for treating infanti …
At follow-up (median age 23.7mo; IQR 13.4-40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within 60 day …
Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes.
Eriksson MH, Whitaker KJ, Booth J, Piper RJ, Chari A, Martin Sanfilippo P, Caballero AP, Menzies L, McTague A, Adler S, Wagstyl K, Tisdall MM, Cross JH, Baldeweg T. Eriksson MH, et al. Epilepsia. 2023 Sep;64(9):2260-2273. doi: 10.1111/epi.17670. Epub 2023 Jul 21. Epilepsia. 2023. PMID: 37264783 Free PMC article.

There was an annual increase in the number of referrals (7%, 95% confidence interval [CI] = 5.3-8.6; p < .001) and surgeries (4% [95% CI = 2.9-5.6], p < .001) over time. Duration of epilepsy and total number of different ASMs trialed from epilepsy onset to sur

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There was an annual increase in the number of referrals (7%, 95% confidence interval [CI] = 5.3-8.6; p < .001) and surgeries (4% [95% CI

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Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C, Yang L, Xiao F, Yan K, Zhou W. Fang C, et al. Epilepsy Res. 2024 May;202:107363. doi: 10.1016/j.eplepsyres.2024.107363. Epub 2024 Apr 17. Epilepsy Res. 2024. PMID: 38636407
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a rare autosomal recessive disorder due to a deficiency of alpha-aminoadipic semialdehyde dehydrogenase. ...In contrast, neonatal respiratory distress (P=0.001; OR: 127.44) and abnormal brain magnetic resonance imaging …
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a rare autosomal recessive disorder due to a deficiency of alpha-aminoadipic semialdeh …
Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.
Niu X, Yang Y, Chen Y, Cheng M, Liu M, Ding C, Tian X, Yang Z, Jiang Y, Zhang Y. Niu X, et al. Dev Med Child Neurol. 2022 Jan;64(1):105-111. doi: 10.1111/dmcn.14985. Epub 2021 Jul 15. Dev Med Child Neurol. 2022. PMID: 34263451 Free article.
All 18 children showed developmental delay. Focal motor status epilepticus resulted in cerebral atrophy in five individuals, mainly on the contralateral side. ...Three individuals were seizure-free, whereas 15 still had seizures and five had recurrent status epilepticus at …
All 18 children showed developmental delay. Focal motor status epilepticus resulted in cerebral atrophy in five individuals, mainly o …
Treatment decisions in women of childbearing age on valproate.
Harris L, Lowes O, Angus-Leppan H. Harris L, et al. Acta Neurol Scand. 2020 Apr;141(4):287-293. doi: 10.1111/ane.13211. Epub 2020 Jan 21. Acta Neurol Scand. 2020. PMID: 31883101

RESULTS: Hundred patients participated in the study, 89 on AEDs for epilepsy, 4 for migraine, and 7 for both. 55% of participants stated they were not involved in decision-making. More patients in the valproate group were informed about (64% vs 42%, P < .005), an

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RESULTS: Hundred patients participated in the study, 89 on AEDs for epilepsy, 4 for migraine, and 7 for both. 55% of participants sta …
Calgary score and modified Calgary score in the differential diagnosis between neurally mediated syncope and epilepsy in children.
Zou R, Wang S, Zhu L, Wu L, Lin P, Li F, Xie Z, Li X, Wang C. Zou R, et al. Neurol Sci. 2017 Jan;38(1):143-149. doi: 10.1007/s10072-016-2740-5. Epub 2016 Oct 17. Neurol Sci. 2017. PMID: 27747448

There were significant differences in median Calgary score between syncope [-4.00 (-6, 1)] and epilepsy [2 (-3, 5)] (z = -11.63, P < 0.01). When Calgary score 1, the sensitivity and specificity of differential diagnosis between syncope and epilepsy were 91.46 and

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There were significant differences in median Calgary score between syncope [-4.00 (-6, 1)] and epilepsy [2 (-3, 5)] (z = -11.63, P &l …
Vagus nerve stimulation for children with treatment-resistant epilepsy: a consecutive series of 141 cases.
Elliott RE, Rodgers SD, Bassani L, Morsi A, Geller EB, Carlson C, Devinsky O, Doyle WK. Elliott RE, et al. J Neurosurg Pediatr. 2011 May;7(5):491-500. doi: 10.3171/2011.2.PEDS10505. J Neurosurg Pediatr. 2011. PMID: 21529189
Reduction in seizure frequency of at least 50% occurred in 64.8% of patients and 41.4% of patients experienced at least a 75% reduction. ...Given the efficacy of this device and the devastating effects of persistent epilepsy during critical developmental epoc …
Reduction in seizure frequency of at least 50% occurred in 64.8% of patients and 41.4% of patients experienced at least a 75% reducti …