WFRF:(Sigurdsson Björn)
Sökning: WFRF:(Sigurdsson Björn) > (2020-2022) > Dravet syndrome in ...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04646naa a2200421 4500 | |
| 001 | oai:gup.ub.gu.se/319542 | |
| 003 | SwePub | |
| 008 | 240528s2022 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:151674538 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/3195422 URI |
| 024 | 7 | a https://doi.org/10.1016/j.eplepsyres.2022.1069222 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1516745382 URI |
| 040 | a (SwePub)gud (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Bjurulf, Björn,d 1962u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xbjubj |
| 245 | 1 0 | a Dravet syndrome in children - A population-based study |
| 264 | 1 | b Elsevier BV,c 2022 |
| 520 | a Objective: The aim was to describe age at diagnosis, cumulative incidence, SCN1A variants, mortality, seizure types and treatments in children with Dravet Syndrome (DS) in Sweden. Methods: Children diagnosed with DS, born between January 1st 2000 and December 31st 2018 were included in a population-based study. Clinical data, frequency of seizure types and treatments were collected from caregivers and medical records in 42 children. Age at diagnosis, cumulative incidence and treatment were compared between children born in Sweden 2000–2009 and 2010–2018. Results: We identified 55 children with DS, 53 were born in Sweden. Three children had died of definite, probable, or possible sudden unexpected death in epilepsy, one of acute anoxic brain injury and three of pneumonia or pneumonitis. Median age at death was 4.7 (range 3.3–11) years. In 49/53 children with known SCN1A status, a pathogenic/likely pathogenic variant of SCN1A was detected. In two a SCN1A variant of unknown significance was found. For children born in Sweden 2010–2018, median age at DS diagnosis was lower (1.6 vs 4.5 years, p = 0.001) and cumulative incidence higher (1/33,000 vs 1/46,000 live-born children, p = 0.03), compared to children born in 2000–2009. The most common seizure types were focal to bilateral tonic clonic (n = 41/42) and myoclonic (n = 35/42). Tonic seizures were reported in 25/42 children. Sodium-channel inhibitors had been used in 9/24 children born in 2010–2018 and 17/18 children born in 2000–2009 (p = 0.001). Significance: A SCN1A variant that could explain the syndrome was found in over 90% of children. Tonic seizures seem to be more frequent than earlier described. Median age at diagnosis was lower, cumulative incidence higher and use of contra-indicated sodium-channel inhibitors less common for children born in 2010–2018 compared with children born in 2000–2009. This could indicate an increased awareness of DS. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Kardiologi0 (SwePub)302062 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cardiac and Cardiovascular Systems0 (SwePub)302062 hsv//eng |
| 653 | a Anticonvulsants | |
| 653 | a Demography | |
| 653 | a Dravet syndrome | |
| 653 | a Incidence | |
| 653 | a Mortality | |
| 700 | 1 | a Reilly, Colin,d 1977u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xreico |
| 700 | 1 | a Sigurdsson, Gudmundur Vignir,d 1985u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xsiguv |
| 700 | 1 | a Thunström, Sofiau Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut |
| 700 | 1 | a Kolbjer, S.u Karolinska Institutet4 aut |
| 700 | 1 | a Hallböök, Toveu Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xhtove |
| 710 | 2 | a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org |
| 773 | 0 | t Epilepsy Researchd : Elsevier BVg 182q 182x 0920-1211x 1872-6844 |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/319542 |
| 856 | 4 8 | u https://doi.org/10.1016/j.eplepsyres.2022.106922 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:151674538 |
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