Literature DB >> 29740860

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Satoko Miyatake1,2, Mitsuhiro Kato3, Yukio Sawaishi4, Takashi Saito5, Mitsuko Nakashima1,6, Takeshi Mizuguchi1, Satomi Mitsuhashi1, Atsushi Takata1, Noriko Miyake1, Hirotomo Saitsu1,6, Naomichi Matsumoto1.   

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Year:  2018        PMID： 29740860     DOI： 10.1002/ana.25256

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


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  4 in total

Review 1.  Ion Channel Functions in Early Brain Development.

Authors:  Richard S Smith; Christopher A Walsh
Journal:  Trends Neurosci       Date:  2020-01-17       Impact factor: 13.837

Review 2.  Sodium channelopathies of skeletal muscle and brain.

Authors:  Massimo Mantegazza; Sandrine Cestèle; William A Catterall
Journal:  Physiol Rev       Date:  2021-03-26       Impact factor: 46.500

3.  SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

Authors:  Tariq Zaman; Katherine L Helbig; Jérôme Clatot; Christopher H Thompson; Seok Kyu Kang; Katrien Stouffs; Anna E Jansen; Lieve Verstraete; Adeline Jacquinet; Elena Parrini; Renzo Guerrini; Yuh Fujiwara; Satoko Miyatake; Bruria Ben-Zeev; Haim Bassan; Orit Reish; Daphna Marom; Natalie Hauser; Thuy-Anh Vu; Sally Ackermann; Careni E Spencer; Natalie Lippa; Shraddha Srinivasan; Agnieszka Charzewska; Dorota Hoffman-Zacharska; David Fitzpatrick; Victoria Harrison; Pradeep Vasudevan; Shelagh Joss; Daniela T Pilz; Katherine A Fawcett; Ingo Helbig; Naomichi Matsumoto; Jennifer A Kearney; Andrew E Fry; Ethan M Goldberg
Journal:  Ann Neurol       Date:  2020-07-09       Impact factor: 11.274

Review 4.  Predicting the impact of sodium channel mutations in human brain disease.

Authors:  Jeffrey L Noebels
Journal:  Epilepsia       Date:  2019-12       Impact factor: 5.864
  4 in total

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