U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 500

1.
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
Christopher J. Record, Antoinette O'Connor, Nienke E. Verbeek, Wouter van Rheenen, Eleni Zamba Papanicolaou, Stojan Peric, Peter C. Ligthart, Mariola Skorupinska, Ellen van Binsbergen, Philippe M. Campeau, Vukan Ivanovic, Brian Hennigan, John C. McHugh, Julian C. Blake, Yoshiko Murakami, Matilde Laura, Sinéad M. Murphy, Mary M. Reilly
Ann Neurol. 2025 Feb; 97(2): 388–396. Published online 2024 Oct 23. doi: 10.1002/ana.27113
PMCID:
PMC11740278
ArticlePDF–3.5M
2.
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
Lucia Laugwitz, Rebecca Buchert, Patricio Olguín, Mehrdad A. Estiar, Mihaela Atanasova, Wilson Marques Jr., Jörg Enssle, Brian Marsden, Javiera Avilés, Andrés González-Gutiérrez, Noemi Candia, Marietta Fabiano, Susanne Morlot, Susana Peralta, Alisa Groh, Carmen Schillinger, Carolin Kuehn, Linda Sofan, Marc Sturm, Benjamin Bender, Pedro J. Tomaselli, Uta Diebold, Amelie J. Mueller, Stephanie Spranger, Maren Fuchs, Fernando Freua, Uirá Souto Melo, Lauren Mattas, Setareh Ashtiani, Oksana Suchowersky, Samuel Groeschel, Guy A. Rouleau, Keren Yosovich, Marina Michelson, Zvi Leibovitz, Muhammad Bilal, Eyyup Uctepe, Ahmet Yesilyurt, Orhan Ozdogan, Tamer Celik, Ingeborg Krägeloh-Mann, Olaf Riess, Hendrik Rosewich, Muhammad Umair, Dorit Lev, Stephan Zuchner, Ulrich Schweizer, David S. Lynch, Ziv Gan-Or, Tobias B. Haack
Am J Hum Genet. 2025 Jan 2; 112(1): 168–180. Published online 2025 Jan 2. doi: 10.1016/j.ajhg.2024.12.001
PMCID:
PMC11739927
ArticlePDF–3.1M
3.
Abdominal pain as a novel manifestation in children with PCDH19-related epilepsy: A case report
Wandong Hu, Fen Zhao, Ying Ren, Hongwei Zhang, Xiaoying Li
Medicine (Baltimore) 2025 Jan 10; 104(2): e41211. Published online 2025 Jan 10. doi: 10.1097/MD.0000000000041211
PMCID:
PMC11730840
ArticlePDF–645K
4.
De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports
Ying Ren, Wandong Hu, Zaifen Gao, Jianguo Shi, Yong Liu, Hongwei Zhang
Medicine (Baltimore) 2025 Jan 10; 104(2): e41236. Published online 2025 Jan 10. doi: 10.1097/MD.0000000000041236
PMCID:
PMC11729630
ArticlePDF–833K
5.
Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications
Daniela Koeller R. Vieira, Ingrid Bendas Feres Lima, Carla Rosenberg, Carlos Roberto da Fonseca, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida, Patrícia Camacho Mazzonetto, Juan Llerena, Jr., Elenice Ferreira Bastos
Genes (Basel) 2024 Dec; 15(12): 1546. Published online 2024 Nov 29. doi: 10.3390/genes15121546
PMCID:
PMC11728287
ArticlePDF–2.1M
6.
Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance
Dragana Protic, Roberta Polli, Elisa Bettella, Karen Usdin, Alessandra Murgia, Flora Tassone
Int J Mol Sci. 2024 Dec; 25(24): 13681. Published online 2024 Dec 21. doi: 10.3390/ijms252413681
PMCID:
PMC11728179
ArticlePDF–7.7M
7.
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, Caterina Zanus, Elisa Paccagnella, Irene Bruno, Erica Valencic, Anna Morgan, Alberto Tommasini, Christel Thauvin, Allan Bayat, Giorgia Girotto, Luciana Musante
Biomolecules. 2024 Dec; 14(12): 1626. Published online 2024 Dec 18. doi: 10.3390/biom14121626
PMCID:
PMC11727550
ArticlePDF–3.5M
8.
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann
Clin Epigenetics. 2025; 17: 5. Published online 2025 Jan 13. doi: 10.1186/s13148-024-01807-7
PMCID:
PMC11727325
ArticlePDF–1.1M
9.
High-resolution multimodal profiling of human epileptic brain activity via explanted depth electrodes
Anuj Kumar Dwivedi, Arun Mahesh, Albert Sanfeliu, Julian Larkin, Rebecca A. Siwicki, Kieron J. Sweeney, Donncha F. O’Brien, Peter Widdess-Walsh, Simone Picelli, David C. Henshall, Vijay K. Tiwari
JCI Insight. 2025 Jan 9; 10(1): e184518. Published online 2025 Jan 9. doi: 10.1172/jci.insight.184518
PMCID:
PMC11721296
ArticlePDF–3.1M
10.
Beyond the Synapse: FMR1 and FMRP Molecular Mechanisms in the Nucleus
Nicole Hansen, Anna Dischler, Caroline Dias
Int J Mol Sci. 2025 Jan; 26(1): 214. Published online 2024 Dec 30. doi: 10.3390/ijms26010214
PMCID:
PMC11720320
ArticlePDF–2.2M
11.
Differential Inhibition by Cenobamate of Canonical Human Nav1.5 Ion Channels and Several Point Mutants
Teodor Asvadur Şulea, Sorin Draga, Maria Mernea, Alexandru Dan Corlan, Beatrice Mihaela Radu, Andrei-Jose Petrescu, Bogdan Amuzescu
Int J Mol Sci. 2025 Jan; 26(1): 358. Published online 2025 Jan 3. doi: 10.3390/ijms26010358
PMCID:
PMC11720074
ArticlePDF–5.1M
12.
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies
Mariagrazia Talarico, Radha Procopio, Monica Gagliardi, Maria Chiara Sarubbi, Francesco Fortunato, Ilaria Sammarra, Gaetan Lesca, Donatella Malanga, Grazia Annesi, Antonio Gambardella
Int J Mol Sci. 2025 Jan; 26(1): 295. Published online 2024 Dec 31. doi: 10.3390/ijms26010295
PMCID:
PMC11719710
ArticlePDF–2.2M
13.
Administration of Bisphosphonate Preparations to Mice with Mild-type Hypophosphatasia Reduces the Quality of Spontaneous Locomotor Activity
Aki Nakamura-Takahashi, Satoshi Ishizuka, Kengo Hirai, Satoru Matsunaga, Norio Kasahara, Seikou Shintani, Shinichi Abe, Masataka Kasahara
Calcif Tissue Int. 2025; 116(1): 30. Published online 2025 Jan 9. doi: 10.1007/s00223-024-01326-w
PMCID:
PMC11717816
ArticlePDF–2.2M
14.
Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay
Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu
BMC Pediatr. 2025; 25: 18. Published online 2025 Jan 9. doi: 10.1186/s12887-024-05267-z
PMCID:
PMC11715414
ArticlePDF–1.9M
15.
Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity
Gage M. J. Fairlie, Kha M. Nguyen, Sung-Eun Nam, Alexandria L. Shaw, Matthew A. H. Parson, Hannah R. Shariati, Xinyin Wang, Meredith L. Jenkins, Michael Gong, John E. Burke, Calvin K. Yip
Nat Commun. 2025; 16: 479. Published online 2025 Jan 8. doi: 10.1038/s41467-025-55828-8
PMCID:
PMC11711316
ArticlePDF–2.8M
16.
Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism
Susan Lin, Aravind R Gade, Hong-Gang Wang, James E Niemeyer, Allison Galante, Isabella DiStefano, Patrick Towers, Jorge Nunez, Maiko Matsui, Theodore H Schwartz, Anjali Rajadhyaksha, Geoffrey S Pitt
eLife. 2025; 13: RP98661. Published online 2025 Jan 8. doi: 10.7554/eLife.98661
PMCID:
PMC11709433
ArticlePDF–7.8M
17.
Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families
Behjat Ul Mudassir, Mujaddid Mudassir, Jamal B. Williams, Zehra Agha
PLoS One. 2025; 20(1): e0315597. Published online 2025 Jan 8. doi: 10.1371/journal.pone.0315597
PMCID:
PMC11709262
ArticlePDF–1.5M
18.
A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy
Alexandru Capisizu, Carmen Sandu, Roxana Maria Caragea, Adriana Sorina Capisizu
J Med Life. 2024 Nov; 17(11): 1023–1029. doi: 10.25122/jml-2024-0312
PMCID:
PMC11705475
ArticlePDF–2.4M
19.
Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study
Cristina Garcia-Bravo, Domingo Palacios-Ceña, Ángel Aledo-Serrano, Javier Güeita-Rodríguez, Juan Francisco Velarde-García, Juan Nicolas Cuenca-Zaldivar, Romain Marconnot, María Cristina Alonso-Blanco, Jorge Pérez-Corrales, Carmen Jimenez-Antona
Ann Med. 2025; 57(1): 2446702. Published online 2024 Dec 28. doi: 10.1080/07853890.2024.2446702
PMCID:
PMC11703127
ArticlePDF–1.5M
20.
Clinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report
Vahid Saeedi, Nahid Rahimzadeh, Fahimeh Ehsanipour, Neda Shalbaf, Amirhosein Farahi, Khalil Rashidi, Leila Kamalzadeh
BMC Pediatr. 2025; 25: 1. Published online 2025 Jan 4. doi: 10.1186/s12887-024-05311-y
PMCID:
PMC11699824
ArticlePDF–1.1M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center