Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Autor: Zou Pan, Marielle E. van Gijn, Marjolein H. Willemsen, Mariet W. Elting, Susanne Koning, Daniel C. Koboldt, Rebecca Baud, Renzo Guerrini, Ghayda M. Mirzaa, Laurence E. Walsh, Kim L. McBride, Jenny Thies, Andrew E. Timms, Shaoping Huang, Gretchen E. Rosso, Joshua Scheck, Haley McConkey, Matthew A. Deardorff, Peter D. Turnpenny, Suzanne M. Leal, Sanjay M. Sisodiya, Lin Yang, Melissa Lees, Cacha M.P.C.D. Peeters-Scholte, Henry Houlden, Marielle Alders, J. Austin Hamm, Karla A. Peña-Guerra, Richard E. Person, Leena Lauronen, Hannah K. Robinson, Theresa Mihalic Mosher, Alexandra Garza-Flores, Victoria Harrison, Tuomo Määttä, Daniela Q.C.M. Barge-Schaapveld, James R. Lupski, Houda Zghal Elloumi, Francisco J. Guzmán-Vega, Tamison Jewett, Siddharth Banka, Barbara W. van Paassen, J. Lawrence Merritt, Angela Sun, Yana Lara-Taranchenko, Irma Järvelä, Ivan K. Chinn, Claudia A. L. Ruivenkamp, Nicholas M. Allen, Xiaodong Wang, Amy Crunk, Selina H. Banu, Maura R.Z. Ruzhnikov, Jeffery McGlothlin, Mashaya Zaman, Adam Jackson, Stefan T. Arold, Bert B.A. de Vries, Jing Peng, Lauren Schenck, Isabelle Schrauwen, Marjon van Slegtenhorst, Luis Alberto Pedroza, Bekim Sadikovic, Annalisa Vetro, Reshmi Ramakrishnan, Kristin G. Monaghan, Kelly J. Cardona-Londoño, Catherine Quindipan, Kristina Lanko, Rolph Pfundt, Caroline M. Kehoe, Martino Montomoli, Christian Gilissen, Hamid Galehdari, Yolande van Bever, Jennifer Keller-Ramey, Sadegheh Haghshenas, Neda Mazaheri, Stephanie Efthymiou, Reza Maroofian, Lewis Pang, Fleur Vansenne, Abeltje M. Polstra, Kara C. Klemp, Marjolein J.A. Weerts, Xi Lin, Julia Baptista, Tahsin Stefan Barakat, Anneke Kievit, Adi Reich, Stephen R. Braddock, Shehla Mohammed, Abbey M. Putnam, Jennifer Kerkhof, Matthew Pastore, Sally Ann Lynch

Publikováno v: Genetics in Medicine
Genetics in medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. SPRINGERNATURE
Genetics in Medicine, 23(11), 2122-2137. Nature Publishing Group
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137 . https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 2122-2137
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01246-2

Contains fulltext : 243955.pdf (Publisher’s version ) (Open Access) PURPOSE: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e4f87d1b2de6f4ec6880e740ae29d4
https://doi.org/10.1038/s41436-021-01246-2

Progressive Myoclonic Epilepsy: Review Article with A Case Report of Lafora Disease

Autor: Mashaya Zaman Koli, Selina H Banu

Publikováno v: Bangladesh Journal of Child Health. 42:138-147

Progressive myoclonic epilepsy (PME) is an autosomal recessive, apparently a rare complex epilepsy syndrome. Among different types of PME, lafora body disease is more quickly progressive usually fatal within 2nd and 3rd decade. They are characterized

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eaadeb5dd461f62d5afe0b0ef3dd0807
https://doi.org/10.3329/bjch.v42i3.39269

Neurodevelopmental Evaluation in Full-term Newborns with Neonatal Hypoxic Ischemic Encephalopathy (HIE): A Case Control Study

Autor: Afm Salim, Naila Z. Khan, Selina H Banu, Rawnak Ara, Roksana Akhter

Publikováno v: Bangladesh Journal of Child Health. 39:6-13

Background: Newborns with Hypoxic Ischemic Encephalopathy (HIE) are at risk of neuro-developmental disabilities. Early identification of their neuro-developmental impairments (NDI), immediate intervention and reassessment might be a useful method to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2ab5fccd31d7eb345befc5acc2ff88e2
https://doi.org/10.3329/bjch.v39i1.28352

Prediction of seizure outcome in childhood epilepsies in countries with limited resources: a prospective study

Autor: Selina H, Banu, Naila Z, Khan, Mahmuda, Hossain, Saadia, Ferdousi, Stewart, Boyd, Rod C, Scott, Brian, Neville

Publikováno v: Developmental medicine and child neurology. 54(10)

To identify predictors of seizure control in newly presenting children with epilepsy in countries with limited resources.Three hundred and ninety children (273 males, 117 females) aged 2 months to 15 years with newly diagnosed epilepsy were enrolled

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::02e7c758e7d8a729816507d09ec1b0b8
https://pubmed.ncbi.nlm.nih.gov/22680993

Side effects of phenobarbital and carbamazepine in childhood epilepsy: randomised controlled trial

Autor: Umme Kulsum Koli, Naila Z. Khan, Saadia Ferdousi, Selina H Banu, Brian G. R. Neville, Moshrat Jahan

Publikováno v: BMJ. 334:1207

Objective: To compare the behavioural side effects associated with two commonly used antiepilepsy drugs--phenobarbital and carbamazepine--in children in Bangladesh. Design: Prospective randomised controlled single centre trial. Setting: Specialist ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa12cc3295404bcf999641df1e4790ac
https://doi.org/10.1136/bmj.39022.436389.be