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Items: 1 to 20 of 39

1.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature
Christina L. Magyar, David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis, Yuezhen Lin, Marcela F. Astudillo, Jill A. Rosenfeld, Alyssa A. Tran, James B. Gibson, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 4.
Published in final edited form as: Am J Med Genet A. 2022 Jun; 188(6): 1868–1874. Published online 2022 Feb 23. doi: 10.1002/ajmg.a.62704
PMCID:
PMC11149102
AbstractArticlePDF–855K
2.
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
Frederike L. Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D. M. Pena, Theodosia A. Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Eur J Hum Genet. 2024 May; 32(5): 558–566. Published online 2024 Feb 19. doi: 10.1038/s41431-024-01563-5
PMCID:
PMC11061173
AbstractArticlePDF–1.8M
3.
Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant—Our Experience and Systematic Review of the Literature
Adina Stoian, Zoltan Bajko, Rodica Bălașa, Sebastian Andone, Mircea Stoian, Ioana Ormenișan, Carmen Muntean, Claudia Bănescu
Biomolecules. 2024 Mar; 14(3): 270. Published online 2024 Feb 23. doi: 10.3390/biom14030270
PMCID:
PMC10968252
AbstractArticlePDF–3.0M
4.
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
AbstractArticlePDF–1.9M
5.
Enfermedad neurológica asociada al gen KIF1A: correlación genotipo/fenotipo
Ana Ortiz-Ortigosa, Rocío Calvo-Medina, César Ruiz-García, Rafael Vera-Medialdea, José M. Ramos-Fernández
Rev Neurol. 2023; 77(6): 141–145. Spanish. Published online 2023 Sep 16. doi: 10.33588/rn.7706.2023185
PMCID:
PMC10662185
AbstractArticlePDF–766K
6.
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza, Alessandra D’Amico, Fortunato Lonardo, Vincenzo Nigro, Giuseppe Limongelli, Gioacchino Scarano
Genes (Basel) 2023 Jul; 14(7): 1444. Published online 2023 Jul 14. doi: 10.3390/genes14071444
PMCID:
PMC10379968
AbstractArticlePDF–2.5M
7.
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
PURVI MAJETHIA, MICHELLE C DO ROSARIO, PARNEET KAUR, KARANVIR, RAAGUL SHANKAR, SUVASINI SHARMA, SHAHYAN SIDDIQUI, ANJU SHUKLA
Ann Hum Genet. Author manuscript; available in PMC 2023 Mar 7.
Published in final edited form as: Ann Hum Genet. 2022 Mar; 86(2): 94–101. Published online 2021 Dec 8. doi: 10.1111/ahg.12452
PMCID:
PMC9990823
AbstractArticlePDF–1.0M
8.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Fizza Akbar, Shahnaz Ibrahim, Bushra Afroze, Mohammad Doosti, Farah Ashrafzadeh, Meisam Babaei, Stephanie Efthymiou, Marilena Christoforou, Tipu Sultan, Roger L. Ladda, Heather M. McLaughlin, Rebecca Truty, Sonal Mahida, Julie S. Cohen, Kristin Baranano, Fatima Y. Ismail, Millan S. Patel, Anna Lehman, Andrew C. Edmondson, Amanda Nagy, Melissa A. Walker, Saadet Mercimek-Andrews, Yuta Maki, Rani Sachdev, Rebecca Macintosh, Elizabeth E. Palmer, Grazia M. S. Mancini, Tahsin Stefan Barakat, Robert Steinfeld, Christina T. Rüsch, Georg M. Stettner, Matias Wagner, Saskia B. Wortmann, Usha Kini, Angela F. Brady, Karen L. Stals, Naila Ismayilova, Sian Ellard, Danilo Bernardo, Kimberly Nugent, Scott D. McLean, Stylianos E. Antonarakis, Henry Houlden, Taroh Kinoshita, Philippe M. Campeau, Yoshiko Murakami
Genet Med. Author manuscript; available in PMC 2023 Feb 6.
Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1873–1881. Published online 2021 Jun 10. doi: 10.1038/s41436-021-01215-9
PMCID:
PMC9900493
AbstractArticlePDF–1.5M
9.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila
Hyung-Lok Chung, Patrick Rump, Di Lu, Megan R Glassford, Jung-Wan Mok, Jawid Fatih, Adily Basal, Paul C Marcogliese, Oguz Kanca, Michele Rapp, Johanna M Fock, Erik-Jan Kamsteeg, James R Lupski, Austin Larson, Mark C Haninbal, Hugo Bellen, Tamar Harel
Hum Mol Genet. 2022 Oct 1; 31(19): 3231–3244. Published online 2022 Mar 2. doi: 10.1093/hmg/ddac053
PMCID:
PMC9523557
AbstractArticlePDF–1.2M
10.
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review
Piero Pavone, Xena Giada Pappalardo, Martino Ruggieri, Raffaele Falsaperla, Enrico Parano
Medicine (Baltimore) 2022 Aug 5; 101(31): e29413. Published online 2022 Aug 5. doi: 10.1097/MD.0000000000029413
PMCID:
PMC9351909
AbstractArticlePDF–473K
11.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan S Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
Brain. 2022 Jul; 145(7): 2301–2312. Published online 2022 Apr 4. doi: 10.1093/brain/awac116
PMCID:
PMC9337806
AbstractArticlePDF–1.7M
12.
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
Swetha Ramadesikan, Scott Hickey, Emily De Los Reyes, Anup D. Patel, Samuel J. Franklin, Patrick Brennan, Erin Crist, Kristy Lee, Peter White, Kim L. McBride, Daniel C. Koboldt, Richard K. Wilson
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006165. doi: 10.1101/mcs.a006165
PMCID:
PMC8958912
AbstractArticlePDF–1.3M
13.
A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management
Tuba Rashid Khan, Alison Dolce, Kimberly Goodspeed
BMC Neurol. 2022; 22: 60. Published online 2022 Feb 16. doi: 10.1186/s12883-022-02573-w
PMCID:
PMC8848676
AbstractArticlePDF–1.4M
14.
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements
Imane Abdelmoumen, Sandra Jimenez, Ignacio Valencia, Joseph Melvin, Agustin Legido, Mayela M. Diaz-Diaz, Christopher Griffith, Lauren J. Massingham, Melissa Yelton, Janice Rodríguez-Hernández, Rhonda E. Schnur, Laurence E. Walsh, Ana G. Cristancho, Christina A. Bergqvist, Kirsty McWalter, Iain Mathieson, Gillian M. Belbin, Eimear E. Kenny, Xilma R. Ortiz-Gonzalez, Michael C. Schneider
J Child Neurol. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: J Child Neurol. 2021 Feb; 36(2): 93–98. Published online 2020 Sep 15. doi: 10.1177/0883073820953001
PMCID:
PMC8496110
AbstractArticlePDF–498K
15.
Defining the phenotypical spectrum associated with variants in TUBB2A
Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C Jansen, Katrien Stouffs
J Med Genet. 2021 Jan; 58(1): 33–40. Published online 2020 Jun 22. doi: 10.1136/jmedgenet-2019-106740
PMCID:
PMC7803914
AbstractArticlePDF–3.0M
16.
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study
Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S. Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, Quasar S. Padiath, Ana Potic, Jacek Pilch, Aikaterini Vezyroglou, Ann M.E. Bye, Andrew M. Davis, Monique M. Ryan, Christopher Semsarian, Georgina Hollingsworth, Ingrid E. Scheffer, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Alexis Arzimanoglou, Eleni Panagiotakaki, Inês Carrilho, Claudio Zucca, Jan Novy, Karolina Dzieżyc, Marek Parowicz, Maria Mazurkiewicz-Bełdzińska, Sarah Weckhuysen, Roser Pons, Sergiu Groppa, Daniel S. Sinden, Geoffrey S. Pitt, Andrew Tinker, Michael Ashworth, Zuzanna Michalak, Maria Thom, J. Helen Cross, Rosaria Vavassori, Juan P. Kaski, Sanjay M. Sisodiya
Neurology. 2020 Nov 24; 95(21): e2866–e2879. doi: 10.1212/WNL.0000000000010794
PMCID:
PMC7734736
AbstractArticlePDF–1.2M
17.
First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin, Jing Peng
BMC Med Genet. 2020; 21: 235. Published online 2020 Nov 26. doi: 10.1186/s12881-020-01162-3
PMCID:
PMC7691102
AbstractArticlePDF–839K
18.
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy
Géza Berecki, Katherine L. Helbig, Tyson L. Ware, Bronwyn Grinton, Cara M. Skraban, Eric D. Marsh, Samuel F. Berkovic, Steven Petrou
Int J Mol Sci. 2020 Sep; 21(17): 6333. Published online 2020 Aug 31. doi: 10.3390/ijms21176333
PMCID:
PMC7503748
AbstractArticlePDF–1.6M
19.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Jonathan Humbert, Smrithi Salian, Periklis Makrythanasis, Gabrielle Lemire, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Rami Alasiri, Armand Bottani, Sylviane Hanquinet, Erin Beaver, Jennifer Heeley, Ann C.M. Smith, Seth I. Berger, Stylianos E. Antonarakis, Xiang-Jiao Yang, Jacques Côté, Philippe M. Campeau
Am J Hum Genet. 2020 Sep 3; 107(3): 564–574. Published online 2020 Aug 20. doi: 10.1016/j.ajhg.2020.08.002
PMCID:
PMC7477011
AbstractArticlePDF–1.6M
20.
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
Patrick R. Blackburn, Matthew J. Schultz, Carrie A. Lahner, Dong Li, Elizabeth Bhoj, Laura J. Fisher, Deborah L. Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A. Schrier Vergano, Fowzan S. Alkuraya, Brendan C. Lanpher
Ann Clin Transl Neurol. 2020 Jun; 7(6): 1013–1028. Published online 2020 Jun 9. doi: 10.1002/acn3.51074
PMCID:
PMC7318087
AbstractArticlePDF–6.3M

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