Emi Mazaki-Miyazaki - Concepedia

Author

Emi Mazaki-Miyazaki

RIKEN Center for Brain Science

Also Known As

E Mazaki-Miyazaki, E. Mazaki–Miyazaki, Emi Mazaki-Miyazaki

Publications

984

Citations

H-Index

Concepts

All Affiliations

RIKEN Center for Brain Science Shiga Medical Center for Children University of California San Diego National Epilepsy Center Hirosaki University

About

Emi Mazaki-Miyazaki is an author at RIKEN Center for Brain Science specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	222
2	Genetics	3	3	143
3	Social Sciences	2	2	152
4	Neurology	2	2	95
5	Neuroscience	2	2	152

Emi Mazaki-Miyazaki

Publications

836

Citations

H-Index

Page 1

	Year	Citations
A missense mutation of the Na <sup>+</sup> channel α <sub>II</sub> subunit gene <i>Na</i> <sub>v</sub> <i>1.2</i> in a patient with febrile and afebrile seizures causes channel dysfunction Takashi Sugawara, Yuji Tsurubuchi, Kishan Agarwala, Proceedings of the National Academy of Sciences	2001	378
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy Takashi Sugawara, Emi Mazaki-Miyazaki, Katsuyuki Fukushima, Neurology	2002	236
Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents Takashi Sugawara, Yuji Tsurubuchi, Tateki Fujiwara, Epilepsy Research Hyperpolarization (Biology)NeurophysiologySevere Myoclonic EpilepsyPhysiologyNav1.1 Channels	2003	79
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel α1 subunit gene, SCN1A M. Ito, Hiroshi Nagafuji, Hidehiko Okazawa, Epilepsy Research Synaptic PlasticityAutosomal Dominant EpilepsyNeurophysiologyGenetic DisorderGenetics	2002	73
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures Kazue Kimura, Takashi Sugawara, Emi Mazaki-Miyazaki, Brain and Development Mendelian DisorderGenetic DisorderGeneticsMissense MutationFebrile Seizures	2005	54
A family of generalized epilepsy with febrile seizures plus type 2—a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures Yoshiro Nagao, Emi Mazaki-Miyazaki, Nami Okamura, Epilepsy Research Generalized EpilepsyMendelian DisorderGenetic DisorderNew Missense MutationGenetics	2005	16

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