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1983 1
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Page 1
Helping Families Cope with the Severe Stress of Dravet Syndrome.
Camfield P, Camfield C, Nolan K. Camfield P, et al. Can J Neurol Sci. 2016 Jun;43 Suppl 3:S9-S12. doi: 10.1017/cjn.2016.248. Can J Neurol Sci. 2016. PMID: 27264140 Review.
Dravet syndrome usually has three phases: (1) up to 1-1 years: with episodes of febrile status epilepticus but normal development; (2) age 1 to ~6-10 years: with frequent seizures of varying types, developmental stagnation, behavioural and sleep problems; (3) after …
Dravet syndrome usually has three phases: (1) up to 1-1 years: with episodes of febrile status epilepticus but normal development; (2) age 1 …
Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study.
Kostanian D, Rebreikina A, Voinova V, Sysoeva O. Kostanian D, et al. Mol Autism. 2023 Oct 26;14(1):40. doi: 10.1186/s13229-023-00566-1. Mol Autism. 2023. PMID: 37885019 Free PMC article.
Moreover, late components (P2N1 and N2P2) were drastically reduced in Rett syndrome irrespective of the SOA, suggesting a largely affected mechanism of integration of upcoming sensory input with memory. Moreover, developmental stagnation of auditory ERP characterize …
Moreover, late components (P2N1 and N2P2) were drastically reduced in Rett syndrome irrespective of the SOA, suggesting a largely affected m …
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.
Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M. Kern J, et al. Neurology. 2024 Jan 9;102(1):e207898. doi: 10.1212/WNL.0000000000207898. Epub 2023 Dec 12. Neurology. 2024. PMID: 38165373
RESULTS: In 21 patients with GM2 gangliosidosis (17 Tay-Sachs, 2 GM2 activator deficiency, 2 Sandhoff disease), 2 disease clusters were discriminated: an early-onset and early diagnosis cluster (type I; n = 8, including activator deficiency and Sandhoff disease) and a cluster wit …
RESULTS: In 21 patients with GM2 gangliosidosis (17 Tay-Sachs, 2 GM2 activator deficiency, 2 Sandhoff disease), 2 disease clusters were disc …
Rett syndrome: the late infantile regression period--a retrospective analysis of 91 cases.
Engerström IW. Engerström IW. Acta Paediatr. 1992 Feb;81(2):167-72. doi: 10.1111/j.1651-2227.1992.tb12196.x. Acta Paediatr. 1992. PMID: 1515763 Review.
For general information, data from 91 girls and women were used (group A), while more detailed analysis was based on the youngest 20, all born during the last decade (group B). Median ages at onset of developmental stagnation (stage I) were 11 (5-24) and 10 (5-18) m …
For general information, data from 91 girls and women were used (group A), while more detailed analysis was based on the youngest 20, all bo …
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.
Perry MS, Scheffer IE, Sullivan J, Brunklaus A, Boronat S, Wheless JW, Laux L, Patel AD, Roberts CM, Dlugos D, Holder D, Knupp KG, Lallas M, Phillips S, Segal E, Smeyers P, Lal D, Wirrell E, Zuberi S, Brünger T, Wojnaroski M, Maru B, O'Donnell P, Morton M, James E, Vila MC, Huang N, Gofshteyn JS, Rico S. Perry MS, et al. Epilepsia. 2024 Feb;65(2):322-337. doi: 10.1111/epi.17850. Epub 2023 Dec 22. Epilepsia. 2024. PMID: 38049202 Free article.
OBJECTIVE: Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by high seizure burden, treatment-resistant epilepsy, and developmental stagnation. Family members rate communication deficits among the most impactful disease manifestatio …
OBJECTIVE: Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by high seizure burden, treatment-resistant ep …
Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy.
Hellebrekers DMJ, Doorenweerd N, Sweere DJJ, van Kuijk SMJ, Aartsma-Rus AM, Klinkenberg S, Vles JSH, Hendriksen JGM. Hellebrekers DMJ, et al. Eur J Paediatr Neurol. 2020 Mar;25:120-126. doi: 10.1016/j.ejpn.2020.01.002. Epub 2020 Jan 7. Eur J Paediatr Neurol. 2020. PMID: 31964551
Post-hoc analyses suggested lower scores on verbal span and processing speed for patients missing Dp427 and Dp140. In DMD, a developmental stagnation in verbal span capacity, irrespective of normal processing speed, is detected through longitudinal follow-up. ...
Post-hoc analyses suggested lower scores on verbal span and processing speed for patients missing Dp427 and Dp140. In DMD, a developmenta …
Age-related occurrence of signs and symptoms in the Rett syndrome.
Witt Engerström I. Witt Engerström I. Brain Dev. 1992 May;14 Suppl:S11-20. Brain Dev. 1992. PMID: 1378244
For general information, data from 91 girls and women were used (group A), while the more detailed analyses were based on three age related subgroups: the youngest 20, born 1980-87 (group B); the 34 girls born 1970-79 (group C); and the oldest 37, born 1945-69 (group D). Data fro …
For general information, data from 91 girls and women were used (group A), while the more detailed analyses were based on three age related …
Catastrophic epilepsy in infants and children: identification of surgical candidates.
Wyllie E. Wyllie E. Epileptic Disord. 1999 Dec;1(4):261-4. Epileptic Disord. 1999. PMID: 10937164 Free article.
Some pediatric candidates for epilepsy surgery have epilepsy which is considered catastrophic because of a high seizure frequency, often many per day, in association with developmental stagnation or regression. Increasing numbers of infants with catastrophic epileps …
Some pediatric candidates for epilepsy surgery have epilepsy which is considered catastrophic because of a high seizure frequency, often man …
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.
Hagberg B, Aicardi J, Dias K, Ramos O. Hagberg B, et al. Ann Neurol. 1983 Oct;14(4):471-9. doi: 10.1002/ana.410140412. Ann Neurol. 1983. PMID: 6638958
After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of higher brain functions. ...
After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed …
A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.
Fendri-Kriaa N, Hsairi I, Kifagi C, Ellouze E, Mkaouar-Rebai E, Triki C, Fakhfakh F; Tunisian network on mental retardation study. Fendri-Kriaa N, et al. Biochem Biophys Res Commun. 2011 Jun 3;409(2):270-4. doi: 10.1016/j.bbrc.2011.04.140. Epub 2011 May 7. Biochem Biophys Res Commun. 2011. PMID: 21575601
Rett patients present an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. ...
Rett patients present an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they show a short perio …
11 results