Publications:

Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.

Neurobiology Of Disease

Galanopoulou, Aristea S AS; Moshé, Solomon L SL

Publication Date: 2015-07

Variant appearance in text: SCN1A: N1417H

PubMed Link: 25968935

Variant Present in the following documents:

• Main text

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Advances on genetic rat models of epilepsy.

Experimental Animals

Serikawa, Tadao T; Mashimo, Tomoji T; Kuramoro, Takashi T; Voigt, Birger B; Ohno, Yukihiro Y; Sasa, Masashi M

Publication Date: 2015

Variant appearance in text: SCN1A: N1417H

PubMed Link: 25312505

Variant Present in the following documents:

• Main text
• expanim-64-001.pdf

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Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.

The Journal Of General Physiology

Volkers, Linda L; Kahlig, Kristopher M KM; Das, Joost H G JH; van Kempen, Marjan J A MJ; Lindhout, Dick D; Koeleman, Bobby P C BP; Rook, Martin B MB

Publication Date: 2013-12

Variant appearance in text: SCN1A: N1417H

PubMed Link: 24277604

Variant Present in the following documents:

• Main text
• JGP_201311042.pdf

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A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Mashimo, Tomoji T; Ohmori, Iori I; Ouchida, Mamoru M; Ohno, Yukihiro Y; Tsurumi, Toshiko T; Miki, Takafumi T; Wakamori, Minoru M; Ishihara, Shizuka S; Yoshida, Takashi T; Takizawa, Akiko A; Kato, Megumi M; Hirabayashi, Masumi M; Sasa, Masashi M; Mori, Yasuo Y; Serikawa, Tadao T

Publication Date: 2010-04-21

Variant appearance in text: SCN1A: N1417H

PubMed Link: 20410126

Variant Present in the following documents:

• Main text

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