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Items: 1 to 20 of 30

1.
Multi‐disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series
Benjamin Edmonds, Jacqueline P. Ngo, Aran Groves, Beck Reyes, Rolanda A. Gott, Dennis J. Chia, Hilda Mirbaha, Shino Magaki, Negar Khanlou, Stacy L. Pineles, Noriko Salamon, Rachel M. Thompson, Maya Newman, Rajsekar R. Rajaraman, Shaun A. Hussain, Aria Fallah, Bianca Russell, Hiroki Nariai
Epilepsia Open. 2024 Dec; 9(6): 2510–2517. Published online 2024 Oct 23. doi: 10.1002/epi4.13079
PMCID:
PMC11633684
ArticlePDF–853K
2.
Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease
Aara Patel, Valda Pauzuolyte, Neil J. Ingham, Yeh Chwan Leong, Wolfgang Berger, Karen P. Steel, Jane C. Sowden
Proc Natl Acad Sci U S A. 2024 Dec 3; 121(49): e2322124121. Published online 2024 Nov 25. doi: 10.1073/pnas.2322124121
PMCID:
PMC11626139
ArticlePDF–7.9M
3.
Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy
Mario Nappi, Giulio Alberini, Alessandro Berselli, Agnese Roscioni, Maria Virginia Soldovieri, Ilenio Servettini, Vincenzo Barrese, Sarah Weckhuysen, Ting-Gee Annie Chiu, Ingrid E. Scheffer, Fabio Benfenati, Luca Maragliano, Francesco Miceli, Maurizio Taglialatela
Proc Natl Acad Sci U S A. 2024 Dec 3; 121(49): e2412388121. Published online 2024 Nov 27. doi: 10.1073/pnas.2412388121
PMCID:
PMC11626135
ArticlePDF–2.1M
4.
Behavioural and neurodevelopmental characteristics of SYNGAP1
Nadja Bednarczuk, Harriet Housby, Irene O. Lee, IMAGINE Consortium, David Skuse, Jeanne Wolstencroft
J Neurodev Disord. 2024; 16: 46. Published online 2024 Aug 15. doi: 10.1186/s11689-024-09563-8
PMCID:
PMC11325819
ArticlePDF–937K
5.
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders
Anne T Berg, Christopher H Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J E Kaiser, Katherine Paltell, Amanda N Nili, Jean-Marc L DeKeyser, Tatiana V Abramova, Gerry Nesbitt, Shawn M Egan, Carlos G Vanoye, Alfred L George, Jr
Brain. 2024 Aug; 147(8): 2761–2774. Published online 2024 Apr 23. doi: 10.1093/brain/awae125
Correction in:
Brain. 2024 Sep 13
PMCID:
PMC11292900
ArticlePDF–865K
6.
Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early‐infantile developmental and epileptic encephalopathies
Jing Zhang, Xinting Liu, Gang Zhu, Lin Wan, Yan Liang, Nannan Li, Mingwei Huang, Guang Yang
Brain Behav. 2024 May; 14(5): e3535. Published online 2024 May 21. doi: 10.1002/brb3.3535
PMCID:
PMC11109505
ArticlePDF–1.3M
7.
Long‐term effectiveness and tolerability of ketogenic diet therapy in patients with genetic developmental and epileptic encephalopathy onset within the first 6 months of life
Tianyu Song, Jie Deng, Chunhong Chen, Xiaohui Wang, Tongli Han, Xu Wang, Tie Fang, Xiaojuan Tian, Fang Fang
Epilepsia Open. 2024 Apr; 9(2): 643–652. Published online 2024 Jan 18. doi: 10.1002/epi4.12899
PMCID:
PMC10984301
ArticlePDF–279K
8.
Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease
Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Rafał Płoski
Genes (Basel) 2024 Mar; 15(3): 350. Published online 2024 Mar 11. doi: 10.3390/genes15030350
PMCID:
PMC10970303
ArticlePDF–3.8M
9.
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice
Ingrid E. Scheffer, Caitlin A. Bennett, Deepak Gill, Michelle G. de Silva, Kirsten Boggs, Justine Marum, Naomi Baker, Australian Genomics DEE Flagship , Elizabeth E. Palmer, Katherine B. Howell
Dev Med Child Neurol. 2023 Jan; 65(1): 50–57. Published online 2022 Jun 14. doi: 10.1111/dmcn.15308
PMCID:
PMC10952465
ArticlePDF–179K
10.
Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability
Marisol Sampedro-Castañeda, Lucas L. Baltussen, André T. Lopes, Yichen Qiu, Liina Sirvio, Simeon R. Mihaylov, Suzanne Claxton, Jill C. Richardson, Gabriele Lignani, Sila K. Ultanir
Nat Commun. 2023; 14: 7830. Published online 2023 Dec 11. doi: 10.1038/s41467-023-43475-w
PMCID:
PMC10713615
ArticlePDF–1.8M
11.
Complex Synaptic and Intrinsic Interactions Disrupt Input/Output Functions in the Hippocampus of Scn1b Knock-Out Mice
Jessica Hotard Chancey, Alisha A. Ahmed, Fernando Isaac Guillén, Vighnesh Ghatpande, MacKenzie A. Howard
J Neurosci. 2023 Dec 6; 43(49): 8562–8577. doi: 10.1523/JNEUROSCI.0786-23.2023
PMCID:
PMC10711733
ArticlePDF–4.5M
12.
Vaccination against COVID‐19 and potential protective effects on seizure recurrence in children with epilepsy: A cross‐sectional survey
Congjie Chen, Ningning Chen, Li Xie, Yuanyuan Luo, Jiannan Ma, Tingsong Li
Epilepsia Open. 2023 Sep; 8(3): 1133–1141. Published online 2023 Jul 28. doi: 10.1002/epi4.12794
PMCID:
PMC10472363
ArticlePDF–420K
13.
Efficacy of perampanel in pediatric epilepsy with known and presumed genetic etiology
Pu Miao, Xueying Zhu, Wenqin Jin, Lingyan Yu, Yanfang Li, Ye Wang, Qunyan Su, Sha Xu, Shuang Wang, Jianhua Feng
Ann Clin Transl Neurol. 2023 Aug; 10(8): 1374–1382. Published online 2023 Jun 16. doi: 10.1002/acn3.51828
PMCID:
PMC10424658
ArticlePDF–1003K
14.
Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Yumi Hoshino, Minori Kodaira, Atsuhiro Matsuno, Tomoki Kaneko, Tetsuhiro Fukuyama, Kyoko Takano, Masahide Yazaki, Yoshiki Sekijima
Intern Med. 2022 Feb 15; 61(4): 553–557. Published online 2021 Aug 24. doi: 10.2169/internalmedicine.7843-21
PMCID:
PMC8907781
ArticlePDF–1.0M
15.
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
ArticlePDF–2.0M
16.
A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report
Tong Qiu, Qian Dai, Qiu Wang
J Int Med Res. 2021 Nov; 49(11): 03000605211058372. Published online 2021 Dec 1. doi: 10.1177/03000605211058372
PMCID:
PMC8647271
ArticlePDF–542K
17.
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants
Joseph D Symonds, Katherine S Elliott, Jay Shetty, Martin Armstrong, Andreas Brunklaus, Ioana Cutcutache, Louise A Diver, Liam Dorris, Sarah Gardiner, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Ailsa McLellan, Stewart MacLeod, Mary O’Regan, Matthew Page, Elizabeth Pilley, Daniela T Pilz, Elma Stephen, Kirsty Stewart, Houman Ashrafian, Julian C Knight, Sameer M Zuberi
Brain. 2021 Sep; 144(9): 2879–2891. Published online 2021 Oct 21. doi: 10.1093/brain/awab162
PMCID:
PMC8557326
ArticlePDF–594K
18.
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review
Carlotta Spagnoli, Carlo Fusco, Antonio Percesepe, Vincenzo Leuzzi, Francesco Pisani
Int J Mol Sci. 2021 Apr; 22(8): 4202. Published online 2021 Apr 18. doi: 10.3390/ijms22084202
PMCID:
PMC8072943
ArticlePDF–659K
19.
Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, Craig A. Bingman, Selina Reich, Jan Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Durr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter de Jonghe, Willem de Ridder, Matthieu Bereau, Stephanie Demuth, Christos Ganos, A. Nazli Basak, Hasmet Hanagasi, Semra Hiz Kurul, Benjamin Bender, Ludger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horvath, Bart van de Warrenburg, Lydie Burglen, Christelle Rougeot, Claire Ewenczyk, Michel Koenig, Filippo M. Santorelli, Mathieu Anheim, Renato P. Munhoz, Tobias Haack, Felix Distelmaier, David J. Pagliarini, Hélène Puccio, Matthis Synofzik
Ann Neurol. 2020 Aug; 88(2): 251–263. Published online 2020 Jun 10. doi: 10.1002/ana.25751
PMCID:
PMC7877690
ArticlePDF–7.6M
20.
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency
Melissa L. DiBacco, Ana Pop, Gajja S. Salomons, Ellen Hanson, Jean-Baptiste Roullet, K. Michael Gibson, Phillip L. Pearl
Neurology. 2020 Nov 10; 95(19): e2675–e2682. doi: 10.1212/WNL.0000000000010730
PMCID:
PMC7713737
ArticlePDF–336K

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