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Literature DB >> 22926866

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

Hirotomo Saitsu, Mitsuhiro Kato, Ayaka Koide, Tomohide Goto, Takako Fujita, Kiyomi Nishiyama, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kiyoshi Hayasaka, Naomichi Matsumoto.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
KCNQ2 Potassium Channel

Year: 2012 PMID： 22926866 DOI： 10.1002/ana.23620

Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422

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49 in total

1. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Authors: Kazuyuki Nakamura; Hirofumi Kodera; Tenpei Akita; Masaaki Shiina; Mitsuhiro Kato; Hideki Hoshino; Hiroshi Terashima; Hitoshi Osaka; Shinichi Nakamura; Jun Tohyama; Tatsuro Kumada; Tomonori Furukawa; Satomi Iwata; Takashi Shiihara; Masaya Kubota; Satoko Miyatake; Eriko Koshimizu; Kiyomi Nishiyama; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Kiyoshi Hayasaka; Kazuhiro Ogata; Atsuo Fukuda; Naomichi Matsumoto; Hirotomo Saitsu
Journal: Am J Hum Genet Date: 2013-08-29 Impact factor: 11.025

Review 2. The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Authors: Davide Mei; Elena Parrini; Carla Marini; Renzo Guerrini
Journal: Mol Diagn Ther Date: 2017-08 Impact factor: 4.074

Review 3. The genetics of the epilepsies.

Authors: Christelle M El Achkar; Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal: Curr Neurol Neurosci Rep Date: 2015-07 Impact factor: 5.081

Review 4. Application of next-generation sequencing technologies in Neurology.

Authors: Teng Jiang; Meng-Shan Tan; Lan Tan; Jin-Tai Yu
Journal: Ann Transl Med Date: 2014-12

5. Hippocalcin and KCNQ channels contribute to the kinetics of the slow afterhyperpolarization.

Authors: Kwang S Kim; Masaaki Kobayashi; Ken Takamatsu; Anastasios V Tzingounis
Journal: Biophys J Date: 2012-12-18 Impact factor: 4.033

6. Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

Authors: Erika Della Mina; Roberto Ciccone; Francesca Brustia; Baran Bayindir; Ivan Limongelli; Annalisa Vetro; Maria Iascone; Laura Pezzoli; Riccardo Bellazzi; Gianfranco Perotti; Valentina De Giorgis; Simona Lunghi; Giangennaro Coppola; Simona Orcesi; Pietro Merli; Salvatore Savasta; Pierangelo Veggiotti; Orsetta Zuffardi
Journal: Eur J Hum Genet Date: 2014-05-21 Impact factor: 4.246

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

1. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Review 2. The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Review 3. The genetics of the epilepsies.

Review 4. Application of next-generation sequencing technologies in Neurology.

5. Hippocalcin and KCNQ channels contribute to the kinetics of the slow afterhyperpolarization.

6. Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

Review 7. Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.

8. Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal Neurons.

Review 9. Genetics of the epilepsies: where are we and where are we going?

Review 10. WONOEP appraisal: new genetic approaches to study epilepsy.