PMC Articles for MedGen (Select 934684) - PMC

Select item 97495701.

Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center

Amal Y. Kentab, Shumukh Al Bulayhi, Muddathir H. Hamad, Ali Al Wadei, Fahad A. Bashiri

Neurosciences (Riyadh) 2022 Oct; 27(4): 244–250. doi: 10.17712/nsj.2022.4.20220001

PMCID:: PMC9749570

Abstract Article PDF–443K

Select item 85495312.

CDKL5 Deficiency Augments Inhibitory Input into the Dentate Gyrus That Can Be Reversed by Deep Brain Stimulation

Shuang Hao, Qi Wang, Bin Tang, Zhenyu Wu, Tingting Yang, Jianrong Tang

J Neurosci. 2021 Oct 27; 41(43): 9031–9046. doi: 10.1523/JNEUROSCI.1010-21.2021

PMCID:: PMC8549531

Abstract Article PDF–3.3M

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 61554224.

Plasma Membrane Na⁺-Coupled Citrate Transporter (SLC13A5) and Neonatal Epileptic Encephalopathy

Yangzom D. Bhutia, Jonathan J. Kopel, John J. Lawrence, Volker Neugebauer, Vadivel Ganapathy

Molecules. 2017 Mar; 22(3): 378. Published online 2017 Feb 28. doi: 10.3390/molecules22030378

PMCID:: PMC6155422

Abstract Article PDF–3.2M

Select item 44258445.

Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells

Misato Yoshikawa, Shinji Go, Shun-ichi Suzuki, Akemi Suzuki, Yukio Katori, Thierry Morlet, Steven M. Gottlieb, Michihiro Fujiwara, Katsunori Iwasaki, Kevin A. Strauss, Jin-ichi Inokuchi

Hum Mol Genet. 2015 May 15; 24(10): 2796–2807. Published online 2015 Feb 4. doi: 10.1093/hmg/ddv041

PMCID:: PMC4425844

Abstract Article PDF–1.0M

Select item 29871886.

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

Tod Fullston, Louise Brueton, Tracey Willis, Sunny Philip, Lesley MacPherson, Merran Finnis, Jozef Gecz, Jenny Morton

Eur J Hum Genet. 2010 Feb; 18(2): 157–162. Published online 2009 Sep 9. doi: 10.1038/ejhg.2009.139

PMCID:: PMC2987188

Abstract Article PDF–525K

Select item 26330447.

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern

PLoS Genet. 2009 Feb; 5(2): e1000381. Published online 2009 Feb 13. doi: 10.1371/journal.pgen.1000381

Correction in:: PLoS Genet. 2009 Apr; 5(4): 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8ece3a.

PMCID:: PMC2633044

Abstract Article PDF–1.1M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity