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Items: 1 to 20 of 93

1.
Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Elizabeth A. VanSickle, Julianne Michael, André S. Bachmann, Surender Rajasekaran, Jeremy W. Prokop, Ruben Kuzniecky, Floris C. Hofstede, Katharina Steindl, Anita Rauch, Mark H. Lipson, Caleb P. Bupp
Am J Med Genet A. 2021 Nov; 185(11): 3485–3493. Published online 2021 Sep 3. doi: 10.1002/ajmg.a.62473
Correction in:
Am J Med Genet A. 2023 Jul; 191(7): 2003.
PMCID:
PMC9292803
AbstractArticlePDF–1.8M
2.
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Epi4K Consortium, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project
Eur J Hum Genet. 2017 Jul; 25(7): 894–899. Published online 2017 May 17. doi: 10.1038/ejhg.2017.61
PMCID:
PMC5520073
AbstractArticlePDF–181K
3.
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
Epilepsy Phenome/Genome Project & Epi4K Consortium, Andrew S. Allen, Samuel F. Berkovic, Bradley P. Coe, Joseph Cook, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E. Eichler, Michael P. Epstein, Tracy Glauser, David B. Goldstein, Erin L. Heinzen, Michael R. Johnson, Nik Krumm, Ruben Kuzniecky, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Ben Nelson, Sahar Esmaeeli Nieh, Terence J. O'Brien, Ruth Ottman, Stephen Petrou, Slavé Petrovski, Annapurna Poduri, Archana Raja, Elizabeth K. Ruzzo, Ingrid E. Scheffer, Elliott Sherr, Bassel Abou‐Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amron, Jocelyn F. Bautista, Samuel F. Berkovic, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess‐Walsh, Melodie R. Winawer
Ann Neurol. 2015 Aug; 78(2): 323–328. Published online 2015 Jul 1. doi: 10.1002/ana.24457
PMCID:
PMC4646089
AbstractArticlePDF–90K
4.
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
EuroEPINOMICS-RES Consortiumeb.ca.au@SER-scimonipeorue, Epilepsy Phenome/Genome Project, Epi4K Consortium
Am J Hum Genet. 2014 Oct 2; 95(4): 360–370. doi: 10.1016/j.ajhg.2014.08.013
Correction in:
Am J Hum Genet. 2017 Jan 5; 100(1): 179.
PMCID:
PMC4185114
AbstractArticlePDF–1.2M
5.
Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Phenome/Genome Project (EPGP)
Daniel Friedman, Robyn Fahlstrom, the EPGP Investigators
Epilepsy Res. Author manuscript; available in PMC 2014 Dec 1.
Published in final edited form as: Epilepsy Res. 2013 Dec; 107(3): 306–310. Published online 2013 Oct 1. doi: 10.1016/j.eplepsyres.2013.09.007
PMCID:
PMC4176610
AbstractArticlePDF–434K
6.
De novo mutations in the classic epileptic encephalopathies
Epi4K and EPGP Investigators
Nature. Author manuscript; available in PMC 2014 Mar 13.
Published in final edited form as: Nature. 2013 Sep 12; 501(7466): 217–221. Published online 2013 Aug 11. doi: 10.1038/nature12439
PMCID:
PMC3773011
AbstractArticlePDF–764K
7.
Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes
Joseph G. Gleeson, Sharon Minnerath, Ruben I. Kuzniecky, William B. Dobyns, Ian D. Young, M. Elizabeth Ross, Christopher A. Walsh
Am J Hum Genet. 2000 Sep; 67(3): 574–581. Published online 2000 Jul 27. doi: 10.1086/303043
PMCID:
PMC1287517
AbstractArticlePDF–557K
8.
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred
Muhammad A. Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I. Majeed, Kausar Malik, Khushbakht Fatima, Asma A. Khan, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin
Genes (Basel) 2024 May; 15(5): 580. Published online 2024 May 2. doi: 10.3390/genes15050580
PMCID:
PMC11121239
AbstractArticlePDF–2.6M
9.
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Ayumi Matsumoto, Shintaro Kano, Natsumi Kobayashi, Mitsuru Matsuki, Rieko Furukawa, Hirokazu Yamagishi, Hiroki Yoshinari, Waka Nakata, Hiroko Wakabayashi, Hidetoshi Tsuda, Kazuhisa Watanabe, Hironori Takahashi, Takanori Yamagata, Takayoshi Matsumura, Hitoshi Osaka, Harushi Mori, Sadahiko Iwamoto
Sci Rep. 2024; 14: 440. Published online 2024 Jan 3. doi: 10.1038/s41598-023-50668-2
PMCID:
PMC10764769
AbstractArticlePDF–2.7M
10.
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation
Clara Gontijo Camelo, Mariana Cunha Artilheiro, Cristiane Araújo Martins Moreno, Suely Fazio Ferraciolli, André Macedo Serafim Silva, Tatiana Ribeiro Fernandes, Leandro Tavares Lucato, Antônio José Rocha, Umbertina Conti Reed, Edmar Zanoteli
J Neuromuscul Dis. 2023; 10(4): 483–492. Prepublished online 2023 May 9. Published online 2023 Jul 4. doi: 10.3233/JND-221638
PMCID:
PMC10357150
AbstractArticlePDF–852K
11.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Clin Genet. 2023 Mar; 103(3): 346–351. Published online 2022 Dec 2. doi: 10.1111/cge.14264
PMCID:
PMC10108251
AbstractArticlePDF–964K
12.
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin
Am J Med Genet A. 2023 Feb; 191(2): 526–539. Published online 2022 Nov 25. doi: 10.1002/ajmg.a.63057
PMCID:
PMC10099970
AbstractArticlePDF–2.4M
13.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
Nataliya Di Donato, Renzo Guerrini, Charles J Billington, Jr, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman G Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, William B Dobyns
Brain. 2022 Sep; 145(9): 3274–3287. Published online 2022 Jun 30. doi: 10.1093/brain/awac164
PMCID:
PMC9989350
AbstractArticlePDF–1.3M
14.
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders
Pitcha Chompoopong, Margherita Milone
Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372
PMCID:
PMC9956253
AbstractArticlePDF–10M
15.
PHF21A Related Disorder: Description of a New Case
Ambra Butera, Antonio Gennaro Nicotera, Gabriella Di Rosa, Sebastiano Antonino Musumeci, Girolamo Aurelio Vitello, Antonino Musumeci, Mirella Vinci, Angelo Gloria, Concetta Federico, Salvatore Saccone, Francesco Calì
Int J Mol Sci. 2022 Dec; 23(24): 16130. Published online 2022 Dec 17. doi: 10.3390/ijms232416130
PMCID:
PMC9783151
AbstractArticlePDF–1.3M
16.
Antisense oligonucleotide therapy for KCNT1 encephalopathy
Lisseth Estefania Burbano, Melody Li, Nikola Jancovski, Paymaan Jafar-Nejad, Kay Richards, Alicia Sedo, Armand Soriano, Ben Rollo, Linghan Jia, Elena V. Gazina, Sandra Piltz, Fatwa Adikusuma, Paul Q. Thomas, Helen Kopsidas, Frank Rigo, Christopher A. Reid, Snezana Maljevic, Steven Petrou
JCI Insight. 2022 Dec 8; 7(23): e146090. Published online 2022 Dec 8. doi: 10.1172/jci.insight.146090
PMCID:
PMC9746904
AbstractArticlePDF–2.8M
17.
Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
Theresa Göbel, Lea Berninger, Andrea Schlump, Bernd Feige, Kimon Runge, Kathrin Nickel, Miriam A. Schiele, Ludger Tebartz van Elst, Alrun Hotz, Svenja Alter, Katharina Domschke, Andreas Tzschach, Dominique Endres
J Neural Transm (Vienna) 2022; 129(11): 1387–1391. Published online 2022 Oct 7. doi: 10.1007/s00702-022-02544-y
PMCID:
PMC9550762
AbstractArticlePDF–826K
18.
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder
Beatriz Baladron, Lidia M. Mielu, Estrella López-Martín, Maria J. Barrero, Lidia Lopez, Jose I. Alvarado, Sara Monzón, Sarai Varona, Isabel Cuesta, Rosario Cazorla, Julián Lara, Gemma Iglesias, Enriqueta Román, Purificación Ros, Gema Gomez-Mariano, Isabel Cubillo, Esther Hernandez-San Miguel, Daniel Rivera, Javier Alonso, Eva Bermejo-Sánchez, Manuel Posada, Beatriz Martínez-Delgado
Int J Mol Sci. 2022 Aug; 23(16): 9480. Published online 2022 Aug 22. doi: 10.3390/ijms23169480
PMCID:
PMC9409358
AbstractArticlePDF–1.1M
19.
Generation of FLAG-tagged Arx knock-in mouse model
Youngshin Lim, Il-Taeg Cho, Jeffrey A. Golden, Ginam Cho
Genesis. Author manuscript; available in PMC 2023 Jul 1.
Published in final edited form as: Genesis. 2022 Jul; 60(6-7): e23479. Published online 2022 Jun 3. doi: 10.1002/dvg.23479
PMCID:
PMC9333336
AbstractArticlePDF–1.9M
20.
A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia
Kristina Sibbin, Patrick Yap, Denis Nyaga, Raoul Heller, Stephen Evans, Kate Strachan, Salam Alburaiky, Han M. (Alex) Nguyen, Sylvie Hermann‐Le Denmat, Austen R. D. Ganley, Justin M. O'Sullivan, Frank H. Bloomfield
Am J Med Genet A. 2022 Apr; 188(4): 1299–1306. Published online 2021 Dec 31. doi: 10.1002/ajmg.a.62631
PMCID:
PMC9302691
AbstractArticlePDF–2.9M

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