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Items: 1 to 20 of 500

1.
Activity-regulated gene expression across cell types of the mouse hippocampus
Erik D. Nelson, Kristen R. Maynard, Kyndall R. Nicholas, Matthew N Tran, Heena R. Divecha, Leonardo Collado-Torres, Stephanie C. Hicks, Keri Martinowich
Hippocampus. Author manuscript; available in PMC 2024 May 27.
Published in final edited form as: Hippocampus. 2023 Sep; 33(9): 1009–1027. Published online 2023 May 24. doi: 10.1002/hipo.23548
PMCID:
PMC11129873
AbstractArticlePDF–2.1M
2.
RNA Sequencing Demonstrates Ex Vivo Neocortical Transcriptomic Changes Induced by Epileptiform Activity in Male and Female Mice
Alec J. Vaughan, Laura J. McMeekin, Kutter Hine, Isaac W. Stubbs, Neela K. Codadu, Simon Cockell, Jonathon T. Hill, Rita Cowell, Andrew J. Trevelyan, R. Ryley Parrish
eNeuro. 2024 May; 11(5): ENEURO.0520-23.2024. Prepublished online 2024 Apr 25. Published online 2024 May 10. doi: 10.1523/ENEURO.0520-23.2024
PMCID:
PMC11129778
AbstractArticlePDF–1.5M
3.
Malignant tumors in tuberous sclerosis complex: a case report and review of the literature
Cassie Liu, Subodh M. Lele, Martin H. Goodenberger, Gwendolyn M. Reiser, Andrew J. Christiansen, James C. Padussis
BMC Med Genomics. 2024; 17: 144. Published online 2024 May 27. doi: 10.1186/s12920-024-01913-8
PMCID:
PMC11129476
AbstractArticlePDF–1.5M
4.
Association of CDKN2A alterations with increased postoperative seizure risk after resection of brain metastases
Daniel D. Cummins, Joseph H. Garcia, Minh P. Nguyen, Satvir Saggi, Jason E. Chung, Ezequiel Goldschmidt, Mitchel S. Berger, Philip V. Theodosopoulos, Edward F. Chang, Mariza Daras, Shawn L. Hervey-Jumper, Manish K. Aghi, Ramin A. Morshed
Neurosurg Focus. Author manuscript; available in PMC 2024 May 26.
Published in final edited form as: Neurosurg Focus. 2023 Aug; 55(2): E14. doi: 10.3171/2023.5.FOCUS23133
PMCID:
PMC11128027
AbstractArticlePDF–340K
5.
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia
Radha Procopio, Francesco Fortunato, Monica Gagliardi, Mariagrazia Talarico, Ilaria Sammarra, Maria Chiara Sarubbi, Donatella Malanga, Grazia Annesi, Antonio Gambardella
Int J Mol Sci. 2024 May; 25(10): 5505. Published online 2024 May 18. doi: 10.3390/ijms25105505
PMCID:
PMC11122195
AbstractArticlePDF–2.4M
6.
Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability
Lăcrămioara Ionela Butnariu, Delia Andreia Bizim, Gabriela Păduraru, Luminița Păduraru, Ștefana Maria Moisă, Setalia Popa, Nicoleta Gimiga, Gabriela Ghiga, Minerva Codruța Bădescu, Ancuta Lupu, Ioana Vasiliu, Laura Mihaela Trandafir
Int J Mol Sci. 2024 May; 25(10): 5533. Published online 2024 May 19. doi: 10.3390/ijms25105533
PMCID:
PMC11122115
AbstractArticlePDF–1.0M
7.
Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders
Miles D. Thompson, Alexej Knaus
Genes (Basel) 2024 May; 15(5): 619. Published online 2024 May 14. doi: 10.3390/genes15050619
PMCID:
PMC11121671
AbstractArticlePDF–2.5M
8.
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables
Larissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Luciana Mello Di Benedetto, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, Anelisa Gollo Dantas, Maria Isabel Melaragno, Chong Ae Kim
Genes (Basel) 2024 May; 15(5): 595. Published online 2024 May 8. doi: 10.3390/genes15050595
PMCID:
PMC11121403
AbstractArticlePDF–289K
9.
Emerging mechanisms and consequences of calcium regulation of alternative splicing in neurons and endocrine cells
Aleh Razanau, Jiuyong Xie
Cell Mol Life Sci. 2013 Dec; 70(23): 4527–4536. Published online 2013 Jun 26. doi: 10.1007/s00018-013-1390-5
PMCID:
PMC11113957
AbstractArticlePDF–956K
10.
Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families
Muhammad Yasin, Laura Licchetta, Niamat Khan, Irfan Ullah, Zakir Jan, Muhammad Dawood, Asif Naveed Ahmed, Arfa Azeem, Raffaella Minardi, Valerio Carelli, Shamim Saleha
BMC Neurol. 2024; 24: 172. Published online 2024 May 23. doi: 10.1186/s12883-024-03671-7
PMCID:
PMC11112905
AbstractArticlePDF–1.4M
11.
Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit
Jacquelyn A. Brown, Shannon L. Faley, Monika Judge, Patricia Ward, Rebecca A. Ihrie, Robert Carson, Laura Armstrong, Mustafa Sahin, John P. Wikswo, Kevin C. Ess, M. Diana Neely
J Neurodev Disord. 2024; 16: 27. Published online 2024 May 23. doi: 10.1186/s11689-024-09543-y
PMCID:
PMC11112784
AbstractArticlePDF–3.2M
12.
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
Pedro Lucas G S B Lima, Paulo R Nobrega, Fernando Freua, Pedro Braga-Neto, Anderson R B Paiva, Thiago Gonçalves Guimarães, Fernando Kok
BMC Neurol. 2024; 24: 169. Published online 2024 May 23. doi: 10.1186/s12883-024-03625-z
PMCID:
PMC11112770
AbstractArticlePDF–1.0M
13.
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
AbstractArticlePDF–1.3M
14.
L-serine synthesis via the phosphorylated pathway in humans
Giulia Murtas, Giorgia Letizia Marcone, Silvia Sacchi, Loredano Pollegioni
Cell Mol Life Sci. 2020 Dec; 77(24): 5131–5148. Published online 2020 Jun 27. doi: 10.1007/s00018-020-03574-z
PMCID:
PMC11105101
AbstractArticlePDF–1.5M
15.
Insights into the mechanisms of epilepsy from structural biology of LGI1–ADAM22
Atsushi Yamagata, Shuya Fukai
Cell Mol Life Sci. 2020 Jan; 77(2): 267–274. Published online 2019 Aug 20. doi: 10.1007/s00018-019-03269-0
PMCID:
PMC11104983
AbstractArticlePDF–1.1M
16.
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira
Arq Neuropsiquiatr. 2024 May; 82(5): 1–8. Published online 2024 May 19. doi: 10.1055/s-0044-1786854
PMCID:
PMC11102811
AbstractArticlePDF–391K
17.
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study
Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W. Frazier, Siddharth Srivastava, Sumit Parikh, Gary E. Hsich, Neil R. Friedman, David M. Ritter, Antonio Y. Hardan, Julian A. Martinez‐Agosto, Mustafa Sahin, Charis Eng
Ann Clin Transl Neurol. 2024 May; 11(5): 1301–1309. Published online 2024 Mar 19. doi: 10.1002/acn3.52046
PMCID:
PMC11093251
AbstractArticlePDF–664K
18.
D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature
Maria Livia Ognean, Ioana Bianca Mutică, Gabriela Adriana Vișa, Ciprian Radu Șofariu, Claudiu Matei, Bogdan Neamțu, Manuela Cucerea, Radu Galiș, Gabriela Ariadna Cocișiu, Ioana Octavia Mătăcuță-Bogdan
Int J Mol Sci. 2024 May; 25(9): 4924. Published online 2024 Apr 30. doi: 10.3390/ijms25094924
PMCID:
PMC11084724
AbstractArticlePDF–1.3M
19.
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, Jr., M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
J Neurodev Disord. 2024; 16: 25. Published online 2024 May 10. doi: 10.1186/s11689-024-09541-0
PMCID:
PMC11084001
AbstractArticlePDF–1.1M
20.
Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome
Sarah Poliquin, Gerald Nwosu, Karishma Randhave, Wangzhen Shen, Carson Flamm, Jing-Qiong Kang
Int J Mol Sci. 2024 May; 25(9): 4601. Published online 2024 Apr 23. doi: 10.3390/ijms25094601
PMCID:
PMC11083348
AbstractArticlePDF–7.0M

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