Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Autor: de Kovel, Carolien G.F., Brilstra, Eva H., van Kempen, Marjan J.A., van‘t Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna‐Elina E., Lemke, Johannes R., Marini, Carla, Mei, Davide, Møller, Rikke S., Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, Sarah, Koeleman, Bobby P.C., R, Balling, N, Barisic, S, Baulac, HS, Caglayan, DC, Craiu, C, Depienne, P, Gormley, H, Hjalgrim, D, Hoffman‐Zacharska, J, Jähn, KM, Klein, V, Komarek, E, LeGuern, H, Lerche, P, May, H, Muhle, D, Pal, A, Palotie, F, Rosenow, K, Selmer, JM, Serratosa, SM, Sisodiya, U, Stephani, K, Sterbova, P, Striano, T, Talvik, M, van Haelst, N, Verbeek, S, von Spiczak, YG, Weber

Publikováno v: Molecular genetics and genomic medicine, 4(5), 568-580. John Wiley and Sons Inc.
Molecular Genetics and Genomic Medicine, 4(5), 568-580. John Wiley and Sons Inc.
de Kovel, C G F, Brilstra, E H, van Kempen, M J A, Van't Slot, R, Nijman, I J, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M, Kramer, U, Lehesjoki, A-E E, Lemke, J R, Marini, C, Mei, D, Møller, R S, Pendziwiat, M, Stamberger, H, Suls, A, Weckhuysen, S, Koeleman, B P C & EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics & Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics and Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 4(5), 568. John Wiley and Sons Inc.

BACKGROUND: Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation.MET

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025dab4670934e26f779833ea21ea6ed
https://pure.amc.nl/en/publications/targeted-sequencing-of-351-candidate-genes-for-epileptic-encephalopathy-in-a-large-cohort-of-patients(f62cb049-4457-4e53-9a45-97fa456012c5).html

[A case of anti-NMDA-receptor encephalitis]

Autor: K, Gross-Paju, L, Vahter, K, Kannel, U, Sorro, H, Jaakmees, T, Talvik

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 114(10 Pt 2)

A clinical case of encephalitis caused by antibodies to NMDA-receptors is presented. This rare pathology is characterized by severe cognitive impairment and needs careful differential diagnosis.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9f903b7cc959d25c5604990d24f6447a
https://pubmed.ncbi.nlm.nih.gov/25591537

Factor V Leiden and prothrombin 20210GA [corrected] mutation and paediatric ischaemic stroke: a case-control study and two meta-analyses

Autor: R, Laugesaar, T, Kahre, A, Kolk, U, Uustalu, P, Kool, T, Talvik

Publikováno v: Acta paediatrica (Oslo, Norway : 1992). 99(8)

To determine whether factor V Leiden (FVL) and prothrombin (PT) 20210GA mutation are associated with paediatric ischaemic stroke.The study consisted of two parts. Case-control study included neuroradiologically confirmed paediatric ischaemic stroke p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::67590e763df798f5c0eaa8e96e4ae5f6
https://pubmed.ncbi.nlm.nih.gov/20337781

Prevalence and short-term outcome of juvenile idiopathic arthritis: a population-based study in Estonia

Autor: C, Pruunsild, K, Uibo, H, Liivamägi, S, Tarraste, T, Talvik, P, Pelkonen

Publikováno v: Clinical and experimental rheumatology. 25(4)

To study the point prevalence of juvenile idiopathic arthritis (JIA) in children in Estonia on December 31, 2000. To examine the short-term clinical outcome of the disease.Identification of patients diagnosed with JIA between 1995-2000. Prospective f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0bf48c41e9ebc0c654296cbc6adeaf6a
https://pubmed.ncbi.nlm.nih.gov/17888227

P460: Electroencephalography and clinical findings in a SCN8A epileptic encephalopathy: a case report

Autor: T. Talvik, U. Vaher, A. Napa, A. Metspalu, M. Nõukas

Publikováno v: Clinical Neurophysiology. 125:S171

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eb77af4f6992c3a9bc5da8700272937e
https://doi.org/10.1016/s1388-2457(14)50560-3