PMC Articles for MedGen (Select 934683) - PMC

Select item 107245161.

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations

Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang Deng

Mol Genet Genomic Med. 2023 Dec; 11(12): e2269. Published online 2023 Aug 18. doi: 10.1002/mgg3.2269

PMCID:: PMC10724516

Article PDF–2.3M

Select item 106906842.

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu

Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811

PMCID:: PMC10690684

Article PDF–4.6M

Select item 101155083.

Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies

Alice M. Donnan, Amy L. Schneider, Sophie Russ-Hall, Leonid Churilov, Ingrid E. Scheffer

Neurology. 2023 Apr 18; 100(16): e1712–e1722. doi: 10.1212/WNL.0000000000207080

PMCID:: PMC10115508

Article PDF–302K

Select item 97495704.

Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center

Amal Y. Kentab, Shumukh Al Bulayhi, Muddathir H. Hamad, Ali Al Wadei, Fahad A. Bashiri

Neurosciences (Riyadh) 2022 Oct; 27(4): 244–250. doi: 10.17712/nsj.2022.4.20220001

PMCID:: PMC9749570

Article PDF–443K

Select item 93029325.

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffner, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen

Neurology. 2022 Jul 19; 99(3): e221–e233. doi: 10.1212/WNL.0000000000200715

Correction in:: Neurology. 2023 Jul 4; 101(1): 52.

PMCID:: PMC9302932

Article PDF–526K

Select item 92669056.

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

Fatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, Urs Graf, Luzy Bähr, Alessandro Maspoli, Annette Hackenberg, Raimund Kottke, Christina Gerth-Kahlert, Wolfgang Berger

Int J Mol Sci. 2022 Jul; 23(13): 7382. Published online 2022 Jul 2. doi: 10.3390/ijms23137382

PMCID:: PMC9266905

Article PDF–2.7M

Select item 87387307.

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

Julia Klau, Rami Abou Jamra, Maximilian Radtke, Henry Oppermann, Johannes R. Lemke, Skadi Beblo, Bernt Popp

Eur J Hum Genet. 2022 Jan; 30(1): 117–125. Published online 2021 Oct 25. doi: 10.1038/s41431-021-00981-z

PMCID:: PMC8738730

Article PDF–2.0M

Select item 84722308.

GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)

Ivana Kolic, Jelena Radic Nisevic, Inge Vlasic Cicvaric, Ivona Butorac Ahel, Kristina Lah Tomulic, Silvije Segulja, Kristina Baraba Dekanic, Senada Serifi, Aleksandar Ovuka, Igor Prpic

Genes (Basel) 2021 Sep; 12(9): 1379. Published online 2021 Aug 31. doi: 10.3390/genes12091379

PMCID:: PMC8472230

Article PDF–229K

Select item 77568479.

Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

Tommy Stödberg, Torbjörn Tomson, Michela Barbaro, Henrik Stranneheim, Britt‐Marie Anderlid, Sofia Carlsson, Per Åmark, Anna Wedell

Epilepsia. 2020 Nov; 61(11): 2486–2499. Published online 2020 Sep 23. doi: 10.1111/epi.16701

PMCID:: PMC7756847

Article PDF–797K

Select item 726175310.

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski

Ann Clin Transl Neurol. 2020 May; 7(5): 610–627. Published online 2020 Apr 14. doi: 10.1002/acn3.51003

PMCID:: PMC7261753

Article PDF–5.0M

Select item 629688211.

Early Infantile Onset Epileptic Encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy

Mariska Davids, Thomas Markello, Lynne A. Wolfe, Xenia Chepa-Lotrea, Cynthia J. Tifft, William A. Gahl, May Christine Malicdan

Hum Mutat. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Hum Mutat. 2019 Jan; 40(1): 42–47. Published online 2018 Nov 18. doi: 10.1002/humu.23675

PMCID:: PMC6296882

Article PDF–1.0M

Select item 554441712.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric B. Toyota, Margot I. Van Allen, Epilepsy Genomics Study, Mohnish Suri, Frances Elmslie, Deciphering Developmental Disorders Study, Marleen E.H. Simon, Koen L.I. van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary B. Connolly, Michelle Demos, Matthew J. Farrer

Am J Hum Genet. 2017 Aug 3; 101(2): 300–310. Published online 2017 Aug 3. doi: 10.1016/j.ajhg.2017.07.004