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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 80"
Page 1
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe developmental and epileptic encephalopathy, often within the epilepsy-aphasia spectrum. ...Other phenotypes such as MRI a …
The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe develo …
Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.
Dreier JW, Bjørk MH, Alvestad S, Gissler M, Igland J, Leinonen MK, Sun Y, Zoega H, Cohen JM, Furu K, Tomson T, Christensen J. Dreier JW, et al. JAMA Neurol. 2023 Jun 1;80(6):568-577. doi: 10.1001/jamaneurol.2023.0674. JAMA Neurol. 2023. PMID: 37067807 Free PMC article.
Of the 4 546 605 children, 54 953 with chromosomal disorders or uncertain birth characteristics were excluded, and 38 661 children of mothers with epilepsy were identified. Data analysis was performed from August 2021 to January 2023. ...This study provides reassuring evid …
Of the 4 546 605 children, 54 953 with chromosomal disorders or uncertain birth characteristics were excluded, and 38 661 children of mother …
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Most diagnoses were non-mitochondrial disorders and included developmental disorders with intellectual disability, epileptic encephalopathies, other metabolic disorders, cardiomyopathies, and leukodystrophies. ...
Most diagnoses were non-mitochondrial disorders and included developmental disorders with intellectual disability, epileptic …
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, the presence of moveme …
BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy …
Genetic and clinical variations of developmental epileptic encephalopathies.
Kaya Özçora GD, Söbü E, Gümüş U. Kaya Özçora GD, et al. Neurol Res. 2023 Mar;45(3):226-233. doi: 10.1080/01616412.2023.2170917. Epub 2023 Feb 2. Neurol Res. 2023. PMID: 36731496
OBJECTIVE: The concept of 'developmental and epileptic encephalopathy (DEE)' recognises that in infants presenting with severe early-onset epilepsy, neurodevelopmental comorbidity may be attributable to both the underlying cause and to adverse effects …
OBJECTIVE: The concept of 'developmental and epileptic encephalopathy (DEE)' recognises that in infants presenting with …
Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.
Cossu A, Lo Barco T, Proietti J, Dalla Bernardina B, Cantalupo G, Ghobert L, Brambilla I, Giarola E, Costa A, De Benito T, Bethge S, Cardot S, Montwill I, Remonato E, Gramaglia S, Darra F. Cossu A, et al. Epilepsy Behav. 2023 May;142:109153. doi: 10.1016/j.yebeh.2023.109153. Epub 2023 Mar 28. Epilepsy Behav. 2023. PMID: 36989566 Free article.
Variants of KCNQ2 are associated with a wide spectrum of disorders, ranging from Self-limiting Neonatal Epilepsy (SelNE) to Early Onset Developmental and Epileptic Encephalopathy (KCNQ2-DEE). ...Notably, patients in different clusters presented differe …
Variants of KCNQ2 are associated with a wide spectrum of disorders, ranging from Self-limiting Neonatal Epilepsy (SelNE) to Early Ons …
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875 Free PMC article.
Thus, their functional characteristics are a critical determinant of brain function. We evaluate intolerance of each GRIA gene to genetic variation using 3DMTR and report here the functional consequences of 52 missense variants in GRIA1-4 identified in patients with variou …
Thus, their functional characteristics are a critical determinant of brain function. We evaluate intolerance of each GRIA gene to gen …
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
Omichi N, Kishita Y, Nakama M, Sasai H, Terazawa A, Kobayashi E, Fushimi T, Sugiyama Y, Ichimoto K, Nitta KR, Yatsuka Y, Ohtake A, Murayama K, Okazaki Y. Omichi N, et al. J Hum Genet. 2023 Sep;68(9):649-652. doi: 10.1038/s10038-023-01156-y. Epub 2023 May 29. J Hum Genet. 2023. PMID: 37246162
Approximately 80% of rare diseases have a genetic cause, and an accurate genetic diagnosis is necessary for disease management, prognosis prediction, and genetic counseling. ...Detailed examination of the breakpoint indicated the deletion caused by recombinat …
Approximately 80% of rare diseases have a genetic cause, and an accurate genetic diagnosis is necessary for disease management, pr …
The core Dravet syndrome phenotype.
Dravet C. Dravet C. Epilepsia. 2011 Apr;52 Suppl 2:3-9. doi: 10.1111/j.1528-1167.2011.02994.x. Epilepsia. 2011. PMID: 21463272 Free article. Review.
Clinical manifestations at the onset, at the steady state, and during the course of the disease are analyzed in detail for the typical Dravet syndrome, and the differential diagnosis is discussed. ...All seizure types are pharmacoresistent, but a trend toward less severe …
Clinical manifestations at the onset, at the steady state, and during the course of the disease are analyzed in detail for the typica …
Developmental evaluation in children experiencing febrile convulsions.
İpek R, Makharoblidze K, Polat BG, Direk MÇ, Yıldırım DD, Kömür M, Okuyaz Ç. İpek R, et al. Turk J Pediatr. 2021;63(4):602-611. doi: 10.24953/turkjped.2021.04.007. Turk J Pediatr. 2021. PMID: 34449142 Free article.
There was no significant relationship found between FC subtypes and gender, family history of FC, family history of epilepsy, iron (Fe) deficiency, and Fe deficiency anemia. DDST II subtest points were significantly lower in all developmental areas in the patient gr …
There was no significant relationship found between FC subtypes and gender, family history of FC, family history of epilepsy, iron (F …
100 results