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136 results

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Quoted phrase not found in phrase index: "Intellectual developmental disorder 60 with seizures"
Page 1
The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Cox DM, Butler MG. Cox DM, et al. Int J Mol Sci. 2015 Feb 13;16(2):4068-82. doi: 10.3390/ijms16024068. Int J Mol Sci. 2015. PMID: 25689425 Free PMC article. Review.
Review of clinical features from about 200 individuals were grouped into five categories and included developmental (73%) and speech (67%) delays; dysmorphic ears (46%) and palatal anomalies (46%); writing (60%) and reading (57%) difficulties, memory problems (60 …
Review of clinical features from about 200 individuals were grouped into five categories and included developmental (73%) and speech …
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D. Brunklaus A, et al. Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24. Neurology. 2022. PMID: 35074891 Free PMC article.
Phenotypes comprise a wide clinical spectrum, including severe childhood epilepsy; Dravet syndrome, characterized by drug-resistant seizures, intellectual disability, and high mortality; and the milder genetic epilepsy with febrile seizures plus (GEFS+ …
Phenotypes comprise a wide clinical spectrum, including severe childhood epilepsy; Dravet syndrome, characterized by drug-resistant seizu …
SCN2A channelopathies: Mechanisms and models.
Hedrich UBS, Lauxmann S, Lerche H. Hedrich UBS, et al. Epilepsia. 2019 Dec;60 Suppl 3:S68-S76. doi: 10.1111/epi.14731. Epilepsia. 2019. PMID: 31904120 Review.
Variants in the SCN2A gene, encoding the voltage-gated sodium channel Na(V) 1.2, cause a variety of neuropsychiatric syndromes with different severity ranging from self-limiting epilepsies with early onset to developmental and epileptic encephalopathy with early or late on …
Variants in the SCN2A gene, encoding the voltage-gated sodium channel Na(V) 1.2, cause a variety of neuropsychiatric syndromes with differen …
Seizures and emergency department: characteristics and factors of repeat adult attendees.
Lennard S, Henley W, McLean B, Allard J, Parrett M, Jadav M, Laugharne R, Shankar R. Lennard S, et al. J Neurol. 2022 Jul;269(7):3770-3778. doi: 10.1007/s00415-022-11006-0. Epub 2022 Feb 13. J Neurol. 2022. PMID: 35152336
BACKGROUND: To identify risk factors and characteristics for the repeated attendance at an emergency department (ED) following a seizure. METHODS: A retrospective cohort study was conducted using non-identifiable data of individuals attending ED at least twice between 2015 …
BACKGROUND: To identify risk factors and characteristics for the repeated attendance at an emergency department (ED) following a seizure …
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.
Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H. Nakamura A, et al. Ann Clin Transl Neurol. 2023 Dec;10(12):2360-2372. doi: 10.1002/acn3.51925. Epub 2023 Oct 26. Ann Clin Transl Neurol. 2023. PMID: 37882106 Free PMC article.
RESULTS: The average age of the subjects was 31.5 (range, 1-81) years. Initial symptoms of BMD were muscular (60%), followed by asymptomatic hypercreatine kinasemia (32.4%) and central nervous system disorders (5.3%). ...Cardiac function on echocardiography varied signific …
RESULTS: The average age of the subjects was 31.5 (range, 1-81) years. Initial symptoms of BMD were muscular (60%), followed by asymp …
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.
IEMs are a group of >600 heterogeneous disorders often presenting in newborns and infants with drug-resistant seizures and/or encephalopathy. Early diagnosis and treatments are key in the prevention of morbidity, early mortality, and high lifetime health care costs, suc …
IEMs are a group of >600 heterogeneous disorders often presenting in newborns and infants with drug-resistant seizures and/or ence …
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. ... …
We assessed retrospectively 80 patients (mean age 36.2 years, range 18-63 years; 29 female) with intellectual disability (ID) …
Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta-analysis.
Strasser L, Downes M, Kung J, Cross JH, De Haan M. Strasser L, et al. Dev Med Child Neurol. 2018 Jan;60(1):19-29. doi: 10.1111/dmcn.13598. Epub 2017 Nov 9. Dev Med Child Neurol. 2018. PMID: 29119560 Free article. Review.
Studies with populations under 18 years showed a 13.2 times greater risk of ASD than study populations over 18 years, and samples with most (>50%) individuals with intellectual disability showed a greater risk 4.9 times higher than study populations with a minori …
Studies with populations under 18 years showed a 13.2 times greater risk of ASD than study populations over 18 years, and samples with most …
A systematic review of neuropsychiatric comorbidities in patients with both epilepsy and intellectual disability.
van Ool JS, Snoeijen-Schouwenaars FM, Schelhaas HJ, Tan IY, Aldenkamp AP, Hendriksen JGM. van Ool JS, et al. Epilepsy Behav. 2016 Jul;60:130-137. doi: 10.1016/j.yebeh.2016.04.018. Epub 2016 May 18. Epilepsy Behav. 2016. PMID: 27206231 Review.
Epilepsy is a neurological condition that is particularly common in people with intellectual disability (ID). The care for people with both epilepsy and ID is often complicated by the presence of neuropsychiatric disorders, defined as psychiatric symptoms, psychiatr …
Epilepsy is a neurological condition that is particularly common in people with intellectual disability (ID). The care for peo …
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 …
136 results