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Search Results - MAZAKI-MIYAZAKI, Emi
Search Results - MAZAKI-MIYAZAKI, Emi
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Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic–clonic seizures
by
Fujiwara, Tateki
,
Sugawara, Takashi
,
Mazaki‐Miyazaki, Emi
,
Takahashi, Yukitoshi
,
Fukushima, Katsuyuki
,
Watanabe, Masako
,
Hara, Keita
,
Morikawa, Tateki
,
Yagi, Kazuichi
,
Yamakawa, Kazuhiro
,
Inoue, Yushi
Published in
Brain (London, England : 1878)
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A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures
by
Kimura, Kazue
,
Sugawara, Takashi
,
Mazaki-Miyazaki, Emi
,
Hoshino, Kyoko
,
Nomura, Yoshiko
,
Tateno, Akihiko
,
Hachimori, Kei
,
Yamakawa, Kazuhiro
,
Segawa, Masaya
Published in
Brain & development (Tokyo. 1979)
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A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
by
Sugawara, Takashi
,
Tsurubuchi, Yuji
,
Agarwala, Kishan Lal
,
Ito, Masatoshi
,
Fukuma, Goryu
,
Mazaki-Miyazaki, Emi
,
Nagafuji, Hiroshi
,
Noda, Masaharu
,
Imoto, Keiji
,
Wada, Kazumaru
,
Mitsudome, Akihisa
,
Kaneko, Sunao
,
Montal, Mauricio
,
Nagata, Keiichi
,
Hirose, Shinichi
,
Yamakawa, Kazuhiro
Published in
Proceedings of the National Academy of Sciences - PNAS
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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
by
Nagao, Yoshiro
,
Mazaki-Miyazaki, Emi
,
Okamura, Nami
,
Takagi, Manabu
,
Igarashi, Takashi
,
Yamakawa, Kazuhiro
Published in
Epilepsy research
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Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
by
Sugawara, Takashi
,
Tsurubuchi, Yuji
,
Fujiwara, Tateki
,
Mazaki-Miyazaki, Emi
,
Nagata, Keiichi
,
Montal, Mauricio
,
Inoue, Yushi
,
Yamakawa, Kazuhiro
Published in
Epilepsy research
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A family of generalized epilepsy with febrile seizures plus type 2- : a new missense mutation of SCN1N found in the pedigree of several patients with complex febrile seizures
by
NAGAO, Yoshiro
,
MAZAKI-MIYAZAKI, Emi
,
OKAMURA, Nami
,
TAKAGI, Manabu
,
IGARASHI, Takashi
,
YAMAKAWA, Kazuhiro
Published in
Epilepsy research
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Mutations of sodium channel a subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
by
FUJIWARA, Tateki
,
SUGAWARA, Takashi
,
INOUE, Yushi
,
MAZAKI-MIYAZAKI, Emi
,
TAKAHASHI, Yukitoshi
,
FUKUSHIMA, Katsuyuki
,
WATANABE, Masako
,
HARA, Keita
,
MORIKAWA, Tateki
,
YAGI, Kazuichi
,
YAMAKAWA, Kazuhiro
Published in
Brain (London, England : 1878)
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Na v1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
by
Sugawara, Takashi
,
Tsurubuchi, Yuji
,
Fujiwara, Tateki
,
Mazaki-Miyazaki, Emi
,
Nagata, Keiichi
,
Montal, Mauricio
,
Inoue, Yushi
,
Yamakawa, Kazuhiro
Published in
Epilepsy research
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Nav 1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
by
SUGAWARA, Takashi
,
TSURUBUCHI, Yuji
,
FUJIWARA, Tateki
,
MAZAKI-MIYAZAKI, Emi
,
NAGATA, Keiichi
,
MONTAL, Mauricio
,
INOUE, Yushi
,
YAMAKAWA, Kazuhiro
Published in
Epilepsy research
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10
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A Missense Mutation of the Na+Channel αIISubunit Gene Nav1.2 in a Patient with Febrile and Afebrile Seizures Causes Channel Dysfunction
by
Sugawara, Takashi
,
Tsurubuchi, Yuji
,
Agarwala, Kishan Lal
,
Ito, Masatoshi
,
Fukuma, Goryu
,
Mazaki-Miyazaki, Emi
,
Nagafuji, Hiroshi
,
Noda, Masaharu
,
Imoto, Keiji
,
Wada, Kazumaru
,
Mitsudome, Akihisa
,
Kaneko, Sunao
,
Montal, Mauricio
,
Nagata, Keiichi
,
Hirose, Shinichi
,
Yamakawa, Kazuhiro
Published in
Proceedings of the National Academy of Sciences - PNAS
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11
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A missense mutation of the Na + channel α II subunit gene Na v 1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
by
Sugawara, Takashi
,
Tsurubuchi, Yuji
,
Agarwala, Kishan Lal
,
Ito, Masatoshi
,
Fukuma, Goryu
,
Mazaki-Miyazaki, Emi
,
Nagafuji, Hiroshi
,
Noda, Masaharu
,
Imoto, Keiji
,
Wada, Kazumaru
,
Mitsudome, Akihisa
,
Kaneko, Sunao
,
Montal, Mauricio
,
Nagata, Keiichi
,
Hirose, Shinichi
,
Yamakawa, Kazuhiro
Published in
Proceedings of the National Academy of Sciences - PNAS
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Epilepsy Research
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Proceedings Of The National Academy Of Sciences - Pnas
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Brain
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Brain & Development
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Proceedings Of The National Academy Of Sciences Of The United States Of America
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Humans
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Nav1.1 Voltage-Gated Sodium Channel
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Nerve Tissue Proteins - Genetics
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Scn1A
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Severe Myoclonic Epilepsy In Infancy
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Sodium Channels - Genetics
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Biological And Medical Sciences
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Clinical Neurology
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Epilepsies, Myoclonic - Genetics
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Febrile Seizures
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Headache. Facial Pains. Syncopes. Epilepsia. Intracranial Hypertension. Brain Oedema. Cerebral Palsy
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Life Sciences & Biomedicine
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Male
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Medical Sciences
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Mutation, Missense
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Nervous System
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Neurology
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Neurosciences & Neurology
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Science & Technology
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Seizures, Febrile - Genetics
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