PMC Articles for MedGen (Select 56235) - PMC

Lisa Asta, Arianna Ricciardello, Francesca Cucinotta, Laura Turriziani, Maria Boncoddo, Fabiana Bellomo, Jessica Angelini, Martina Gnazzo, Giulia Scandolo, Giulia Pisanò, Francesco Pelagatti, Fethia Chehbani, Michela Camia, Antonio M. Persico

J Neurodev Disord. 2024; 16: 57. Published online 2024 Oct 3. doi: 10.1186/s11689-024-09572-7

PMCID:: PMC11451156

Abstract Article PDF–1.5M

Select item 113502545.

Abnormal theta-band rhythm: EEG abnormality as potential biomarkers for disease severity in pediatric anti-NMDAR encephalitis

Yumie Tamura, Mitsumasa Fukuda, Akihiko Ishiyama, Hiroya Nishida, Hirofumi Kashii, Hideaki Mashimo, Kenji Inoue, Hiroshi Sakuma, Satoko Kumada

Epilepsy Behav Rep. 2024; 27: 100704. Published online 2024 Aug 6. doi: 10.1016/j.ebr.2024.100704

PMCID:: PMC11350254

Abstract Article PDF–1.3M

Select item 113361266.

Abnormal EEG microstates in Alzheimer’s disease: predictors of β-amyloid deposition degree and disease classification

Yibing Yan, Manman Gao, Zhi Geng, Yue Wu, Guixian Xiao, Lu Wang, Xuerui Pang, Chaoyi Yang, Shanshan Zhou, Hongru Li, Panpan Hu, Xingqi Wu, Kai Wang

GeroScience. 2024 Oct; 46(5): 4779–4792. Published online 2024 May 10. doi: 10.1007/s11357-024-01181-5

PMCID:: PMC11336126

Abstract Article PDF–929K

Select item 112961067.

Epilepsy, EEG and chromosomal rearrangements

Justyna Paprocka, Antonietta Coppola, Claudia Cuccurullo, Elżbieta Stawicka, Pasquale Striano

Epilepsia Open. 2024 Aug; 9(4): 1192–1232. Published online 2024 Jun 4. doi: 10.1002/epi4.12951

PMCID:: PMC11296106

Abstract Article PDF–18M

Select item 112917598.

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

Samin A. Sajan, Ralph Gradisch, Florian D. Vogel, Alison J. Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E. Bianconi, Annina H. Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik S. Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn

Eur J Hum Genet. 2024 Aug; 32(8): 912–919. Published online 2024 Apr 2. doi: 10.1038/s41431-024-01600-3

PMCID:: PMC11291759

Abstract Article PDF–1.2M

Select item 112852619.

Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China

Ruofei Lian, Gongao Wu, Falin Xu, Shichao Zhao, Mengchun Li, Haiyan Wang, Tianming Jia, Yan Dong

Orphanet J Rare Dis. 2024; 19: 281. Published online 2024 Jul 29. doi: 10.1186/s13023-024-03279-7

PMCID:: PMC11285261

Abstract Article PDF–2.2M

Select item 1119323410.

Children with ADHD and EEG abnormalities at baseline assessment, risk of epileptic seizures and maintenance on methylphenidate three years later

Dobrinko Socanski, Geir Ogrim, Nezla Duric

Ann Gen Psychiatry. 2024; 23: 22. Published online 2024 Jun 21. doi: 10.1186/s12991-024-00510-4

PMCID:: PMC11193234

Abstract Article PDF–1.0M

Select item 1118237611.

Heterozygous Variants in SPTBN1 Cause Intellectual Disability and Autism

Jill A. Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael J. Parker, Mary K. Koenig, Arie van Haeringen, Claudia Ruivenkamp, Joana Rosmaninho-Salgado, Pedro M. Almeida, Joaquim Sá, Jorge Pinto Basto, Emily Palen, Kathryn F. Oetjens, Lindsay C. Burrage, Fan Xia, Pengfei Liu, Christine M. Eng, Undiagnosed Diseases Network, Yaping Yang, Jennifer E. Posey, Brendan H. Lee

Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 17.

Published in final edited form as: Am J Med Genet A. 2021 Jul; 185(7): 2037–2045. Published online 2021 Apr 13. doi: 10.1002/ajmg.a.62201

PMCID:: PMC11182376

Abstract Article PDF–779K

Select item 1114987312.

Association between gait speed deterioration and EEG abnormalities

Daysi García-Agustin, Valia Rodríguez-Rodríguez, Rosa Ma Morgade-Fonte, María A. Bobes, Lídice Galán-García

PLoS One. 2024; 19(6): e0305074. Published online 2024 Jun 4. doi: 10.1371/journal.pone.0305074

PMCID:: PMC11149873

Abstract Article PDF–1.0M

Select item 1114560713.

Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella

Epilepsia Open. 2024 Jun; 9(3): 951–959. Published online 2024 Mar 27. doi: 10.1002/epi4.12920

PMCID:: PMC11145607

Abstract Article PDF–8.4M

Select item 1113600514.

Molecular epigenetics of Angelman syndrome

M. Lalande, M. A. Calciano

Cell Mol Life Sci. 2007 Apr; 64(7-8): 947. Published online 2007 Mar 8. doi: 10.1007/s00018-007-6460-0

PMCID:: PMC11136005

Abstract Article PDF–304K

Select item 1112086915.

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature

Flavia Privitera, Stefano Pagano, Camilla Meossi, Roberta Battini, Emanuele Bartolini, Domenico Montanaro, Filippo Maria Santorelli

Genes (Basel) 2024 May; 15(5): 548. Published online 2024 Apr 25. doi: 10.3390/genes15050548

PMCID:: PMC11120869

Abstract Article PDF–3.0M

Select item 1111957416.

Prognostic value of early EEG abnormalities in severe stroke patients requiring mechanical ventilation: a pre-planned analysis of the SPICE prospective multicenter study

Sarah Benghanem, Nathalie Kubis, Etienne Gayat, Ambre Loiodice, Estelle Pruvost-Robieux, Tarek Sharshar, Arnaud Foucrier, Samy Figueiredo, Viviane Bouilleret, Etienne De Montmollin, François Bagate, Jean-Pascal Lefaucheur, Bertrand Guidet, Emmanuelle Appartis, Alain Cariou, Olivier Varnet, Paul Henri Jost, Bruno Megarbane, Vincent Degos, Loic Le Guennec, Lionel Naccache, Stephane Legriel, France Woimant, Charles Gregoire, David Cortier, Isabelle Crassard, Jean-François Timsit, Mikael Mazighi, Romain Sonneville, and the SPICE investigators

Crit Care. 2024; 28: 173. Published online 2024 May 23. doi: 10.1186/s13054-024-04957-5

PMCID:: PMC11119574

Abstract Article PDF–1.0M

Select item 1100361517.

A systematic review and meta-analysis of factors related to first line drugs refractoriness in patients with juvenile myoclonic epilepsy (JME)

Claire Fayad, Kely Saad, Georges-Junior Kahwagi, Souheil Hallit, Darren Griffin, Rony Abou-Khalil, Elissar El-Hayek

PLoS One. 2024; 19(4): e0300930. Published online 2024 Apr 9. doi: 10.1371/journal.pone.0300930

PMCID:: PMC11003615

Abstract Article PDF–1.4M

Select item 1099589018.

Depressed Heart Rate Variability is Associated with Abnormal EEG, MRI, and Death in Neonates with Hypoxic Ischemic Encephalopathy

Brooke D. Vergales, Santina A. Zanelli, Julie A. Matsumoto, Howard P. Goodkin, Douglas E. Lake, J. Randall Moorman, Karen D. Fairchild

Am J Perinatol. Author manuscript; available in PMC 2024 Apr 5.

Published in final edited form as: Am J Perinatol. 2014 Nov; 31(10): 855–862. Published online 2013 Dec 17. doi: 10.1055/s-0033-1361937

PMCID:: PMC10995890

Abstract Article PDF–694K

Select item 1092995719.

青少年抑郁症静息态脑电微状态与童年期情感虐待的相关性

胡锦辉, 周东东, 赵琳, 马伶丽, 彭薪宇, 何晓庆, 陈然, 陈婉君, 姜正浩, 况利, 王我

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Nov 28; 48(11): 1678–1685. Chinese. doi: 10.11817/j.issn.1672-7347.2023.230220

PMCID:: PMC10929957

Abstract Article PDF–1.2M

Select item 1085522920.

Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder

Grant F. Marshall, Melissa Fasol, Faith C. J. Davies, Matthew Le Seelleur, Alejandra Fernandez Alvarez, Cavan Bennett-Ness, Alfredo Gonzalez-Sulser, Catherine M. Abbott

Dis Model Mech. 2024 Jun 1; 17(6): dmm050501. Published online 2024 Feb 2. doi: 10.1242/dmm.050501

PMCID:: PMC10855229

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