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Select item 97784071.

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia

Valeriia A. Kovalskaia, Victoriia V. Zabnenkova, Marina S. Petukhova, Zhanna G. Markova, Vyacheslav Yu. Tabakov, Oxana P. Ryzhkova

Genes (Basel) 2022 Dec; 13(12): 2186. Published online 2022 Nov 23. doi: 10.3390/genes13122186

PMCID:: PMC9778407

Abstract Article PDF–3.8M

Select item 65617532.

HACE1 deficiency leads to structural and functional neurodevelopmental defects

Vanja Nagy, Ronja Hollstein, Tsung-Pin Pai, Michel K. Herde, Pisanu Buphamalai, Paul Moeseneder, Ewelina Lenartowicz, Anoop Kavirayani, Georg Christoph Korenke, Ivona Kozieradzki, Roberto Nitsch, Ana Cicvaric, Francisco J. Monje Quiroga, Matthew A. Deardorff, Emma C. Bedoukian, Yun Li, Gökhan Yigit, Jörg Menche, E. Ferda Perçin, Bernd Wollnik, Christian Henneberger, Frank J. Kaiser, Josef M. Penninger

Neurol Genet. 2019 Jun; 5(3): e330. Published online 2019 Apr 29. doi: 10.1212/NXG.0000000000000330

PMCID:: PMC6561753

Abstract Article PDF–1.4M

Select item 75593483.

Interactive Effects of Copper Pipe, Stagnation, Corrosion Control, and Disinfectant Residual Influenced Reduction of Legionella pneumophila during Simulations of the Flint Water Crisis

Rebekah L. Martin, Owen R. Strom, Amy Pruden, Marc A. Edwards

Pathogens. 2020 Sep; 9(9): 730. Published online 2020 Sep 4. doi: 10.3390/pathogens9090730

PMCID:: PMC7559348

Abstract Article PDF–3.3M

Select item 108392964.

Phenotypic and genotypic characterization of NPRL3‐related epilepsy: Two case reports and literature review

Dongling Yang, Jinqiu Wang, Zailong Qin, Juntan Feng, Chengyun Mao, Yuyi Chen, Xuelin Huang, Yiyan Ruan

Epilepsia Open. 2024 Feb; 9(1): 33–40. Published online 2023 Nov 28. doi: 10.1002/epi4.12856

PMCID:: PMC10839296

Abstract Article PDF–2.0M

Select item 108118285.

Migraine - a borderland disease to epilepsy: near it but not of it

Jakob Paungarttner, Martina Quartana, Lucrezia Patti, Barbora Sklenárová, Fatemeh Farham, Inés Hernando Jiménez, M. Gokcen Soylu, Irina Maria Vlad, Semih Tasdelen, Teresa Mateu, Oreste Marsico, Federica Reina, Viktoria Tischler, Christian Lampl, on behalf of the European Headache Federation School of Advanced Studies (EHF – SAS)

J Headache Pain. 2024; 25(1): 11. Published online 2024 Jan 26. doi: 10.1186/s10194-024-01719-0

PMCID:: PMC10811828

Abstract Article PDF–1010K

Select item 108392936.

Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature

Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti

Epilepsia Open. 2024 Feb; 9(1): 106–121. Published online 2023 Nov 27. doi: 10.1002/epi4.12837

PMCID:: PMC10839293

Abstract Article PDF–4.6M

Select item 108381857.

Diverse genetic causes of polymicrogyria with epilepsy

Epilepsy Phenome/Genome Project, Epi4K Consortium

Epilepsia. Author manuscript; available in PMC 2024 Feb 3.

Published in final edited form as: Epilepsia. 2021 Apr; 62(4): 973–983. Published online 2021 Apr 5. doi: 10.1111/epi.16854

Correction in:: Epilepsia. 2021 Jun 27

PMCID:: PMC10838185

Abstract Article PDF–546K

Select item 108378818.

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review

Nuo Yang, Limin Chen, Yanfeng Zhang, Xuemei Wu, Yunpeng Hao, Fan Yang, Zuozhen Yang, Jianmin Liang

BMC Pediatr. 2024; 24: 96. Published online 2024 Feb 3. doi: 10.1186/s12887-024-04553-0

PMCID:: PMC10837881

Abstract Article PDF–1.7M

Select item 108367759.

Glioma genetic profiles associated with electrophysiologic hyperexcitability

Steven Tobochnik, Maria Kristina C Dorotan, Hia S Ghosh, Emily Lapinskas, Jayne Vogelzang, David A Reardon, Keith L Ligon, Wenya Linda Bi, Stelios M Smirnakis, Jong Woo Lee

Neuro Oncol. 2024 Feb; 26(2): 323–334. Published online 2023 Sep 15. doi: 10.1093/neuonc/noad176

PMCID:: PMC10836775

Abstract Article PDF–6.9M

Select item 1083423710.

Anti-seizure gene therapy for focal cortical dysplasia

Amanda Almacellas Barbanoj, Robert T Graham, Benito Maffei, Jenna C Carpenter, Marco Leite, Justin Hoke, Felisia Hardjo, James Scott-Solache, Christos Chimonides, Stephanie Schorge, Dimitri M Kullmann, Vincent Magloire, Gabriele Lignani

Brain. 2024 Feb; 147(2): 542–553. Published online 2023 Dec 15. doi: 10.1093/brain/awad387

PMCID:: PMC10834237

Abstract Article PDF–1.2M

Select item 1082924511.

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation

Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin

BMC Med Genomics. 2024; 17: 44. Published online 2024 Jan 31. doi: 10.1186/s12920-024-01805-x

PMCID:: PMC10829245

Abstract Article PDF–1.3M

Select item 1082922612.

Rett syndrome in Ireland: a demographic study

Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes, Daniela Tropea

Orphanet J Rare Dis. 2024; 19: 34. Published online 2024 Jan 31. doi: 10.1186/s13023-024-03046-8

PMCID:: PMC10829226

Abstract Article PDF–1.7M

Select item 1082687813.

NGLY1 mutations cause protein aggregation in human neurons

Andreea Manole, Thomas Wong, Amanda Rhee, Sammy Novak, Shao-Ming Chin, Katya Tsimring, Andres Paucar, April Williams, Traci Fang Newmeyer, Simon T. Schafer, Idan Rosh, Susmita Kaushik, Rene Hoffman, Songjie Chen, Guangwen Wang, Michael Snyder, Ana Maria Cuervo, Leo Andrade, Uri Manor, Kevin Lee, Jeffrey R. Jones, Shani Stern, Maria C. Marchetto, Fred H. Gage

Cell Rep. Author manuscript; available in PMC 2024 Jan 30.

Published in final edited form as: Cell Rep. 2023 Dec 26; 42(12): 113466. Published online 2023 Nov 30. doi: 10.1016/j.celrep.2023.113466

PMCID:: PMC10826878

Abstract Article PDF–2.4M

Select item 1081699014.

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco

Int J Mol Sci. 2024 Jan; 25(2): 1248. Published online 2024 Jan 19. doi: 10.3390/ijms25021248

PMCID:: PMC10816990

Abstract Article PDF–1.6M

Select item 1081528215.

De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy

Jagadish Chandrabose Sundaramurthi, Anita M. Bagley, Hannah Blau, Leigh Carmody, Amy Crandall, Daniel Danis, Michael A. Gargano, Anxhela Gjyshi Gustafson, Ellen M. Raney, Mallory Shingle, Jon R. Davids, Peter N. Robinson

Cold Spring Harb Mol Case Stud. 2023 Dec; 9(4): a006293. doi: 10.1101/mcs.a006293

PMCID:: PMC10815282

Abstract Article PDF–4.7M

Select item 1081510416.

Matrix Metalloproteinase-9 Contributes to Epilepsy Development after Ischemic Stroke in Mice

Barbara Pijet, Agnieszka Kostrzewska-Księzyk, Maja Pijet-Kucicka, Leszek Kaczmarek

Int J Mol Sci. 2024 Jan; 25(2): 896. Published online 2024 Jan 11. doi: 10.3390/ijms25020896

PMCID:: PMC10815104

Abstract Article PDF–1.7M

Select item 1081502117.

Clinical Signs in 166 Beagles with Different Genotypes of Lafora

Thomas Flegel, Christine Dirauf, Alexandra Kehl, Josephine Dietzel, Annette Holtdirk, Ines Langbein-Detsch, Elisabeth Müller

Genes (Basel) 2024 Jan; 15(1): 122. Published online 2024 Jan 19. doi: 10.3390/genes15010122

PMCID:: PMC10815021

Abstract Article PDF–491K

Select item 1081431518.

The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1

Shekhar Singh, Riikka H. Hämäläinen

Cells. 2024 Jan; 13(2): 170. Published online 2024 Jan 16. doi: 10.3390/cells13020170

PMCID:: PMC10814315

Abstract Article PDF–1.2M

Select item 1085824719.

Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy

Rashid Hussain, Chiao Xin Lim, Zeeshan Shaukat, Anowarul Islam, Emily A. Caseley, Jonathan D. Lippiat, Grigori Y. Rychkov, Michael G. Ricos, Leanne M. Dibbens

Sci Rep. 2024; 14: 3357. Published online 2024 Feb 9. doi: 10.1038/s41598-024-53588-x

PMCID:: PMC10858247

Abstract Article PDF–2.1M

Select item 1083933020.

Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations

Shichao Zhao, Ruofei Lian, Liang Jin, Mengchun Li, Tianming Jia, Falin Xu, Kaixian Du, Lijun Wang, Qiliang Guo, Yan Dong

Epilepsia Open. 2024 Feb; 9(1): 250–257. Published online 2023 Dec 8. doi: 10.1002/epi4.12862

PMCID:: PMC10839330

Abstract Article PDF–1.9M

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