PMC Articles for MedGen (Select 1858870) - PMC

Select item 89603191.

Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder

Alessia Di Nardo, Alina Rühmkorf, Patricia Award, Ashton Brennecke, Michela Fagiolini, Mustafa Sahin

Neurosci Res. Author manuscript; available in PMC 2022 Mar 29.

Published in final edited form as: Neurosci Res. 2022 Mar; 176: 73–78. Published online 2021 Oct 5. doi: 10.1016/j.neures.2021.10.001

PMCID:: PMC8960319

Abstract Article PDF–1.3M

Select item 74770112.

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

Abstract Article PDF–1.6M

Select item 65558453.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

Nat Commun. 2019; 10: 2506. Published online 2019 Jun 7. doi: 10.1038/s41467-019-10482-9

PMCID:: PMC6555845

Abstract Article PDF–1.5M

Select item 61566394.

Defective cortex glia plasma membrane structure underlies light-induced epilepsy in cpes mutants

Govind Kunduri, Daniel Turner-Evans, Yutaka Konya, Yoshihiro Izumi, Kunio Nagashima, Stephen Lockett, Joost Holthuis, Takeshi Bamba, Usha Acharya, Jairaj K. Acharya

Proc Natl Acad Sci U S A. 2018 Sep 18; 115(38): E8919–E8928. Published online 2018 Sep 5. doi: 10.1073/pnas.1808463115

PMCID:: PMC6156639

Abstract Article PDF–2.7M

Select item 61127135.

Selective Na_V1.1 activation rescues Dravet syndrome mice from seizures and premature death

Kay L. Richards, Carol J. Milligan, Robert J. Richardson, Nikola Jancovski, Morten Grunnet, Laura H. Jacobson, Eivind A. B. Undheim, Mehdi Mobli, Chun Yuen Chow, Volker Herzig, Agota Csoti, Gyorgy Panyi, Christopher A. Reid, Glenn F. King, Steven Petrou

Proc Natl Acad Sci U S A. 2018 Aug 21; 115(34): E8077–E8085. Published online 2018 Aug 3. doi: 10.1073/pnas.1804764115

PMCID:: PMC6112713

Abstract Article PDF–1.7M

Select item 60044446.

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy

Géza Berecki, Katherine B. Howell, Yadeesha H. Deerasooriya, Maria Roberta Cilio, Megan K. Oliva, David Kaplan, Ingrid E. Scheffer, Samuel F. Berkovic, Steven Petrou

Proc Natl Acad Sci U S A. 2018 Jun 12; 115(24): E5516–E5525. Published online 2018 May 29. doi: 10.1073/pnas.1800077115

PMCID:: PMC6004444

Abstract Article PDF–1.9M

Select item 57998107.

Endothelial cell-derived GABA signaling modulates neuronal migration and postnatal behavior

Suyan Li, Peeyush Kumar T, Sampada Joshee, Timo Kirschstein, Sivan Subburaju, Jahan S Khalili, Jonas Kloepper, Chuang Du, Abdallah Elkhal, Gábor Szabó, Rakesh K Jain, Rüdiger Köhling, Anju Vasudevan

Cell Res. 2018 Feb; 28(2): 221–248. Published online 2017 Oct 31. doi: 10.1038/cr.2017.135

PMCID:: PMC5799810

Abstract Article PDF–6.5M

Select item 57562448.

Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours

Thomas J. Stone, Angus Keeley, Alex Virasami, William Harkness, Martin Tisdall, Elisa Izquierdo Delgado, Alice Gutteridge, Tony Brooks, Mark Kristiansen, Jane Chalker, Lisa Wilkhu, William Mifsud, John Apps, Maria Thom, Mike Hubank, Tim Forshew, J. Helen Cross, Darren Hargrave, Jonathan Ham, Thomas S. Jacques

Acta Neuropathol. 2018; 135(1): 115–129. Published online 2017 Oct 20. doi: 10.1007/s00401-017-1773-z

PMCID:: PMC5756244

Abstract Article PDF–1.8M

Select item 51252359.

Human GRIN2B variants in neurodevelopmental disorders

Chun Hu, Wenjuan Chen, Scott J. Myers, Hongjie Yuan, Stephen F. Traynelis

J Pharmacol Sci. Author manuscript; available in PMC 2016 Nov 28.

Published in final edited form as: J Pharmacol Sci. 2016 Oct; 132(2): 115–121. Published online 2016 Oct 19. doi: 10.1016/j.jphs.2016.10.002

Correction in:: J Pharmacol Sci. 2017 Apr 12

PMCID:: PMC5125235

Abstract Article PDF–449K

Select item 481906610.

Model systems for studying cellular mechanisms of SCN1A-related epilepsy

Soleil S. Schutte, Ryan J. Schutte, Eden V. Barragan, Diane K. O'Dowd

J Neurophysiol. 2016 Apr 1; 115(4): 1755–1766. Published online 2016 Feb 3. doi: 10.1152/jn.00824.2015

PMCID:: PMC4819066

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