PMC Articles for MedGen (Select 154280) - PMC

Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi

Int J Mol Sci. 2024 Jul; 25(13): 6912. Published online 2024 Jun 24. doi: 10.3390/ijms25136912

PMCID:: PMC11241409

Abstract Article PDF–3.8M

Select item 112282027.

ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes

Ming-Feng He, Li-Hong Liu, Sheng Luo, Juan Wang, Jia-Jun Guo, Peng-Yu Wang, Qiong-Xiang Zhai, Su-Li He, Dong-Fang Zou, Xiao-Rong Liu, Bing-Mei Li, Hai-Yan Ma, Jing-Da Qiao, Peng Zhou, Na He, Yong-Hong Yi, Wei-Ping Liao

J Med Genet. 2024 Jul; 61(7): 652–660. Published online 2024 Mar 20. doi: 10.1136/jmg-2023-109725

PMCID:: PMC11228202

Abstract Article PDF–4.4M

Select item 111773798.

Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder

Laura Simões de Oliveira, Heather E. O’Leary, Sarfaraz Nawaz, Rita Loureiro, Elizabeth C. Davenport, Paul Baxter, Susana R. Louros, Owen Dando, Emma Perkins, Julien Peltier, Matthias Trost, Emily K. Osterweil, Giles E. Hardingham, Michael A. Cousin, Sumantra Chattarji, Sam A. Booker, Tim A. Benke, David J. A Wyllie, Peter C. Kind

Mol Autism. 2024; 15: 28. Published online 2024 Jun 14. doi: 10.1186/s13229-024-00601-9

PMCID:: PMC11177379

Abstract Article PDF–4.8M

Select item 111456189.

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey

Sam Amin, Rikke S. Møller, Angel Aledo‐Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López‐Cabeza, Rima Nabbout, Carol‐Anne Partridge, Susanne Schubert‐Bast, Nicola Specchio, Reetta Kälviäinen

Epilepsia Open. 2024 Jun; 9(3): 832–849. Published online 2024 Mar 7. doi: 10.1002/epi4.12914

PMCID:: PMC11145618

Abstract Article PDF–6.2M

Select item 1114560110.

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 1112067711.

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

Alba Gabaldon-Albero, Sonia Mayo, Francisco Martinez

Int J Mol Sci. 2024 May; 25(10): 5198. Published online 2024 May 10. doi: 10.3390/ijms25105198

PMCID:: PMC11120677

Abstract Article PDF–1.2M

Select item 1097030312.

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

Abstract Article PDF–3.8M

Select item 1095263413.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer

Epilepsia. 2023 May; 64(5): 1351–1367. Published online 2023 Mar 11. doi: 10.1111/epi.17542

PMCID:: PMC10952634

Abstract Article PDF–6.2M

Select item 1095246514.

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

Abstract Article PDF–179K

Select item 1080013415.

Rett and Rett-related disorders: Common mechanisms for shared symptoms?

Santosh R D’Mello

Exp Biol Med (Maywood) 2023 Nov; 248(22): 2095–2108. Published online 2023 Dec 6. doi: 10.1177/15353702231209419

PMCID:: PMC10800134

Abstract Article PDF–656K

Select item 1076768316.

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree

Keke Jiang, Shuying Wang, Huixin Sun, Chuanzhi Peng, Nan Li, Shuchan Li, Rongyu Gao, Jie Zhang

Mol Genet Genomic Med. 2024 Jan; 12(1): e2345. Published online 2023 Dec 26. doi: 10.1002/mgg3.2345

PMCID:: PMC10767683

Abstract Article PDF–2.6M

Select item 1076757517.

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep

Laura Licchetta, Lucia Di Giorgi, Margherita Santucci, Lisa Taruffi, Carlotta Stipa, Raffaella Minardi, Valerio Carelli, Francesca Bisulli

Mol Genet Genomic Med. 2024 Jan; 12(1): e2311. Published online 2023 Dec 13. doi: 10.1002/mgg3.2311

PMCID:: PMC10767575

Abstract Article PDF–1.9M

Select item 1076043218.

The Development, Content and Response Process Validation of a Caregiver-Reported Severity Measure for CDKL5 Deficiency Disorder

Sonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, Helen Leonard, Peter Jacoby, Eric D. Marsh, Bernhard Suter, Elia Pestana-Knight, Heather E. Olson, Dana Price, Judith Weisenberg, Rajsekar Rajaraman, Gina VanderVeen, Tim A. Benke, Jenny Downs, Scott Demarest

Epilepsy Res. Author manuscript; available in PMC 2024 Jan 2.

Published in final edited form as: Epilepsy Res. 2023 Nov; 197: 107231. Published online 2023 Sep 20. doi: 10.1016/j.eplepsyres.2023.107231

PMCID:: PMC10760432

Abstract Article PDF–728K

Select item 1072451619.

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations

Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang Deng

Mol Genet Genomic Med. 2023 Dec; 11(12): e2269. Published online 2023 Aug 18. doi: 10.1002/mgg3.2269

PMCID:: PMC10724516

Abstract Article PDF–2.3M

Select item 1071361520.

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

Abstract Article PDF–1.8M

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