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Quoted phrase not found in phrase index: "Intellectual developmental disorder 60 with seizures"
Page 1
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M, Brunklaus A, Zuberi SM. Wolff M, et al. Epilepsia. 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. Epilepsia. 2019. PMID: 31904126 Review.
There is increasing evidence that an important phenotype linked to the gene is autism and intellectual disability without epilepsy or with rare seizures in later childhood. ...Some missense, gain of function variants tend to present in early infancy with epil …
There is increasing evidence that an important phenotype linked to the gene is autism and intellectual disability without epil …
Movement-based seizure detection.
Arends JBAM. Arends JBAM. Epilepsia. 2018 Jun;59 Suppl 1:30-35. doi: 10.1111/epi.14053. Epub 2018 Apr 9. Epilepsia. 2018. PMID: 29635767 Review.
In video-EEG monitoring units, sensitivity for tonic-clonic seizures varied from 31% to 95%, and positive predictive value from 4% to 60%. In a field trial in a residential adult population with intellectual disability, sensitivity was 14% and p …
In video-EEG monitoring units, sensitivity for tonic-clonic seizures varied from 31% to 95%, and positive predictive value from 4% to …
Recent advances in neurometabolic diseases: The genetic role in the modern era.
Tein I. Tein I. Epilepsy Behav. 2023 Aug;145:109338. doi: 10.1016/j.yebeh.2023.109338. Epub 2023 Jul 13. Epilepsy Behav. 2023. PMID: 37453291 Review.
Further research is needed to understand this tool's clinical value and generalizability balanced against its high costs. ...The earlier the recognition and diagnosis and intervention with targeted therapies, the better the overall outcome in terms of the impact on inte …
Further research is needed to understand this tool's clinical value and generalizability balanced against its high costs. ...The earl …
Retraining and control therapy for pediatric psychogenic non-epileptic seizures.
Fobian AD, Long DM, Szaflarski JP. Fobian AD, et al. Ann Clin Transl Neurol. 2020 Aug;7(8):1410-1419. doi: 10.1002/acn3.51138. Epub 2020 Aug 3. Ann Clin Transl Neurol. 2020. PMID: 32748572 Free PMC article. Clinical Trial.
OBJECTIVE: Our aim was to conduct a pilot randomized controlled trial of a novel cognitive behaviorally based intervention for pediatric PNES called Retraining and Control Therapy (ReACT). ...Exclusion criteria included substance use, psychosis, and severe intell …
OBJECTIVE: Our aim was to conduct a pilot randomized controlled trial of a novel cognitive behaviorally based intervention for …
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Coughlin CR, et al. Neurology. 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. Neurology. 2022. PMID: 36008148 Free PMC article.
BACKGROUND AND OBJECTIVES: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. ...These results provide insight into the mechanism of intellectual and …
BACKGROUND AND OBJECTIVES: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by …
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
OBJECTIVE: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual di …
OBJECTIVE: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infan …
Lacosamide in patients with intellectual disability and refractory epilepsy.
Kleist A, Kerling F, Hamer H, Winterholler M. Kleist A, et al. Acta Neurol Belg. 2019 Sep;119(3):423-430. doi: 10.1007/s13760-019-01098-3. Epub 2019 Mar 6. Acta Neurol Belg. 2019. PMID: 30840220
We assessed retrospectively 80 patients (mean age 36.2 years, range 18-63 years; 29 female) with intellectual disability (ID) and drug-resistant epilepsy using an industry-independent, non-interventional study design based on standardised seizure records. Eva …
We assessed retrospectively 80 patients (mean age 36.2 years, range 18-63 years; 29 female) with intellectual disability (ID) …
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 tr …
At follow-up (median age 23.7mo; IQR 13.4-40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within …
Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.
van Karnebeek CD, Stockler S. van Karnebeek CD, et al. Mol Genet Metab. 2012 Mar;105(3):368-81. doi: 10.1016/j.ymgme.2011.11.191. Epub 2011 Nov 30. Mol Genet Metab. 2012. PMID: 22212131 Free article. Review.
BACKGROUND: Intellectual disability ('developmental delay' at age<5 years) affects 2.5% of population worldwide. ...To identify all currently treatable inborn errors of metabolism presenting with predominantly intellectual disability, we perf …
BACKGROUND: Intellectual disability ('developmental delay' at age<5 years) affects 2.5% of population worldwide. ... …
Phenytoin: effective but insidious therapy for epilepsy in people with intellectual disability.
Iivanainen M. Iivanainen M. J Intellect Disabil Res. 1998 Dec;42 Suppl 1:24-31. J Intellect Disabil Res. 1998. PMID: 10030428 Review.
Phenytoin is effective for treating generalized tonic-clonic seizures, partial seizures with or without generalization, and convulsive status epilepticus. ...In patients with epilepsy who also have intellectual disability, and are susceptible to balanc …
Phenytoin is effective for treating generalized tonic-clonic seizures, partial seizures with or without generalization, and co …
61 results