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Select item 59177481.

Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy

Jovana Kovačević, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse, Patrick F Sullivan, Susanne Schoch, Ruud F Toonen, Oliver Stiedl, Matthijs Verhage

Brain. 2018 May; 141(5): 1350–1374. Published online 2018 Mar 12. doi: 10.1093/brain/awy046

PMCID:: PMC5917748

Abstract Article PDF–2.7M

Select item 58933652.

Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome

Albert Orock, Sreemathi Logan, Ferenc Deak

Mol Cell Neurosci. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Mol Cell Neurosci. 2018 Apr; 88: 33–42. Published online 2017 Dec 5. doi: 10.1016/j.mcn.2017.12.002

PMCID:: PMC5893365

Abstract Article PDF–968K

Select item 96954043.

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy

Meng Dong, Tianyu Zhang, Ruimei Hu, Meng Li, Guan Wang, Xinjie Liu

Front Pediatr. 2022; 10: 1010886. Published online 2022 Nov 11. doi: 10.3389/fped.2022.1010886

PMCID:: PMC9695404

Abstract Article PDF–849K

Select item 91603514.

Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families

Muhammad Imran Naseer, Angham Abdulrhman Abdulkareem, Mahmood Rasool, Bader Shirah, Hussein Algahtani, Osama Y. Muthaffar, Peter Natesan Pushparaj

Saudi J Biol Sci. 2022 Jul; 29(7): 103309. Published online 2022 May 20. doi: 10.1016/j.sjbs.2022.103309

PMCID:: PMC9160351

Abstract Article PDF–1.3M

Select item 45877855.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Julia K. Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P. Zimmermann, Eva Wohlleber, Ute Grasshoff, Eva Rossier, Michael Bonin, Elisabeth Mangold, Andrea Bevot, Stefanie Schön, Stefanie Heilmann-Heimbach, Nicola Dennert, Michèle Mathieu-Dramard, Elodie Lacaze, Ghislaine Plessis, Alain de Broca, Guillaume Jedraszak, Benno Röthlisberger, Peter Miny, Isabel Filges, Andreas Dufke, Joris Andrieux, Jennifer A. Lee, Alexander M. Zink

Mol Cytogenet. 2015; 8: 72. Published online 2015 Sep 29. doi: 10.1186/s13039-015-0178-8

PMCID:: PMC4587785

Abstract Article PDF–1.2M

Select item 111456016.

First report of Tunisian patients with CDKL5‐related encephalopathy

Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh

Epilepsia Open. 2024 Jun; 9(3): 906–917. Published online 2024 Apr 29. doi: 10.1002/epi4.12824

PMCID:: PMC11145601

Abstract Article PDF–619K

Select item 106370197.

A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex

D. Mammadova, J. Vecko, M. Hofmann, S. C. Schüssler, L. Deiters, A. Canda, A. K. Wieland, S. Gollwitzer, H. Hamer, Regina Trollmann

Orphanet J Rare Dis. 2023; 18: 349. Published online 2023 Nov 9. doi: 10.1186/s13023-023-02959-0

PMCID:: PMC10637019

Abstract Article PDF–953K

Select item 96791678.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle

Brain. 2022 Nov; 145(11): 3816–3831. Published online 2022 Jun 13. doi: 10.1093/brain/awac210

PMCID:: PMC9679167

Abstract Article PDF–1.3M

Select item 95456039.

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

Fernanda Leal‐Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Tiffany Yar Pang, Jessica Cohen‐Pfeffer, Emanuela Izzo, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya

Epilepsia. 2022 Jul; 63(7): e68–e73. Published online 2022 May 10. doi: 10.1111/epi.17269

PMCID:: PMC9545603

Abstract Article PDF–413K

Select item 950126310.

Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature

Alexandra-Cristina Neagu, Magdalena Budișteanu, Dan-Cristian Gheorghe, Adela-Ioana Mocanu, Horia Mocanu

Medicina (Kaunas) 2022 Sep; 58(9): 1252. Published online 2022 Sep 9. doi: 10.3390/medicina58091252

PMCID:: PMC9501263

Abstract Article PDF–2.3M

Select item 932727011.

EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report

Ilaria Filareto, Giulia Cinelli, Ilaria Scalabrini, Elisa Caramaschi, Patrizia Bergonzini, Elisabetta Spezia, Alessandra Todeschini, Lorenzo Iughetti

Ital J Pediatr. 2022; 48: 128. Published online 2022 Jul 27. doi: 10.1186/s13052-022-01325-3

PMCID:: PMC9327270

Abstract Article PDF–3.2M

Select item 929197412.

Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials

Wenhui Li, Amy L. Schneider, Ingrid E. Scheffer

Epilepsia. 2021 Sep; 62(9): 2205–2217. Published online 2021 Aug 2. doi: 10.1111/epi.17015

PMCID:: PMC9291974

Abstract Article PDF–1.5M

Select item 855507813.

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder

Yan Xu, Ya-lan Dou, Xiang Chen, Xin-ran Dong, Xin-hua Wang, Bing-bing Wu, Guo-qiang Cheng, Yuan-feng Zhou

BMC Pediatr. 2021; 21: 477. Published online 2021 Oct 28. doi: 10.1186/s12887-021-02946-z

PMCID:: PMC8555078

Abstract Article PDF–1.6M

Select item 803237614.

RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood

Sara Zagaglia, Dora Steel, S. Krithika, Laura Hernandez-Hernandez, Helena Martins Custodio, Kathleen M. Gorman, Aikaterini Vezyroglou, Rikke S. Møller, Mary D. King, Trine Bjørg Hammer, Robert Spaull, Walid Fazeli, Tobias Bartolomaeus, Diane Doummar, Boris Keren, Cyril Mignot, Nathalie Bednarek, J. Helen Cross, Andrew A. Mallick, Alba Sanchis-Juan, Anna Basu, F. Lucy Raymond, Bryan J. Lynch, Anirban Majumdar, Hannah Stamberger, Sarah Weckhuysen, Sanjay M. Sisodiya, Manju A. Kurian

Neurology. 2021 Mar 16; 96(11): e1539–e1550. doi: 10.1212/WNL.0000000000011543

PMCID:: PMC8032376

Abstract Article PDF–275K

Select item 753658115.

Peter D. Galer, Shiva Ganesan, David Lewis-Smith, Sarah E. McKeown, Manuela Pendziwiat, Katherine L. Helbig, Colin A. Ellis, Annika Rademacher, Lacey Smith, Annapurna Poduri, Simone Seiffert, Sarah von Spiczak, Hiltrud Muhle, Andreas van Baalen, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Rhys H. Thomas, Roland Krause, Yvonne Weber, Ingo Helbig

Am J Hum Genet. 2020 Oct 1; 107(4): 683–697. Published online 2020 Aug 26. doi: 10.1016/j.ajhg.2020.08.003

PMCID:: PMC7536581

Abstract Article PDF–3.2M

Select item 738924616.

反复抽搐、肺部感染并发育落后

熊娟, 彭镜, 段浩林, 陈晨, 王晓乐, 陈施梦, 尹飞

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Feb 25; 20(2): 154–157. Chinese. doi: 10.7499/j.issn.1008-8830.2018.02.014

PMCID:: PMC7389246

Abstract Article PDF–987K

Select item 733957917.

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano

Ital J Pediatr. 2020; 46: 92. Published online 2020 Jul 6. doi: 10.1186/s13052-020-00860-1

PMCID:: PMC7339579

Abstract Article PDF–1.2M

Select item 722636118.

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

Ferdinando Palmieri, Pasquale Scarcia, Magnus Monné

Biomolecules. 2020 Apr; 10(4): 655. Published online 2020 Apr 23. doi: 10.3390/biom10040655

PMCID:: PMC7226361

Abstract Article PDF–2.8M

Select item 695512619.

Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease

Krami Al Mehdi, Benhnini Fouad, Elkarhat Zouhair, Belkady Boutaina, Naasse Yassine, Ait El Cadi Chaimaa, Sifeddine Najat, Rouba Hassan, Roky Rachida, Barakat Abdelhamid, Nahili Halima

Biomed Res Int. 2019; 2019: 4872101. Published online 2019 Dec 17. doi: 10.1155/2019/4872101

PMCID:: PMC6955126

Abstract Article PDF–2.1M

Select item 687117920.

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

Camille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, Paule Benit, Elodie Sanchez, Thomas Guignard, Frédéric Tran Mau-Them, Emmanuelle Haquet, François Rivier, Emilie Carme, Agathe Roubertie, Anne Boland, Doris Lechner, Vincent Meyer, Julien Thevenon, Yannis Duffourd, Jean-Baptiste Rivière, Jean-François Deleuze, Constance Wells, Florence Molinari, Pierre Rustin, Patricia Blanchet, David Geneviève

Eur J Hum Genet. 2019 Nov; 27(11): 1692–1700. Published online 2019 Jul 8. doi: 10.1038/s41431-019-0433-2

PMCID:: PMC6871179

Abstract Article PDF–1017K

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