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Items: 24

1.

Impaired cortico-striatal excitatory transmission triggers epilepsy.

Miyamoto H, Tatsukawa T, Shimohata A, Yamagata T, Suzuki T, Amano K, Mazaki E, Raveau M, Ogiwara I, Oba-Asaka A, Hensch TK, Itohara S, Sakimura K, Kobayashi K, Kobayashi K, Yamakawa K.

Nat Commun. 2019 Apr 23;10(1):1917. doi: 10.1038/s41467-019-09954-9.

2.

Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity.

Tatsukawa T, Raveau M, Ogiwara I, Hattori S, Miyamoto H, Mazaki E, Itohara S, Miyakawa T, Montal M, Yamakawa K.

Mol Autism. 2019 Mar 28;10:15. doi: 10.1186/s13229-019-0265-5. eCollection 2019.

3.

A rare presentation of uterine rupture - the risk of sequential labour induction with prostaglandins and oxytocin.

Rottenstreich M, Khatib F, Mazaki E, Hirsch A, Sela HY.

J Obstet Gynaecol. 2019 Jul;39(5):714-715. doi: 10.1080/01443615.2018.1553940. Epub 2019 Mar 27. No abstract available.

PMID:
30915873
4.

First trimester expression of anorectal malformation: Case report and review of the literature.

Liberty G, Bardin R, Gilboa Y, Tover A, Mashiach R, Mazaki E, Shen O.

J Clin Ultrasound. 2018 Nov;46(9):591-597. doi: 10.1002/jcu.22612. Epub 2018 Sep 19. Review.

PMID:
30229929
5.

[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome.

Haginoya K, Togashi N, Kaneta T, Hino-Fukuyo N, Ishitobi M, Kakisaka Y, Uematsu M, Inui T, Okubo Y, Sato R, Miyabayashi T, Arai A, Ogiwara I, Mazaki E, Yamakawa K, Iinuma K, Kure S.

Epilepsy Res. 2018 Nov;147:9-14. doi: 10.1016/j.eplepsyres.2018.08.008. Epub 2018 Aug 27.

PMID:
30176532
6.

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.

Ogiwara I, Miyamoto H, Tatsukawa T, Yamagata T, Nakayama T, Atapour N, Miura E, Mazaki E, Ernst SJ, Cao D, Ohtani H, Itohara S, Yanagawa Y, Montal M, Yuzaki M, Inoue Y, Hensch TK, Noebels JL, Yamakawa K.

Commun Biol. 2018;1. pii: 96. doi: 10.1038/s42003-018-0099-2. Epub 2018 Jul 19.

7.

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells.

Tatsukawa T, Ogiwara I, Mazaki E, Shimohata A, Yamakawa K.

Neurobiol Dis. 2018 Apr;112:24-34. doi: 10.1016/j.nbd.2018.01.009. Epub 2018 Jan 11.

PMID:
29337050
8.

Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency.

Miyamoto H, Shimohata A, Abe M, Abe T, Mazaki E, Amano K, Suzuki T, Tatsukawa T, Itohara S, Sakimura K, Yamakawa K.

Hum Mol Genet. 2017 Dec 15;26(24):4961-4974. doi: 10.1093/hmg/ddx379.

PMID:
29040524
9.

Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2.

Yamagata T, Ogiwara I, Mazaki E, Yanagawa Y, Yamakawa K.

Biochem Biophys Res Commun. 2017 Sep 30;491(4):1070-1076. doi: 10.1016/j.bbrc.2017.08.013. Epub 2017 Aug 4.

PMID:
28784306
10.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E.

Neurology. 2016 May 24;86(21):2016-24. doi: 10.1212/WNL.0000000000002704. Epub 2016 Apr 29.

11.

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

Ogiwara I, Iwasato T, Miyamoto H, Iwata R, Yamagata T, Mazaki E, Yanagawa Y, Tamamaki N, Hensch TK, Itohara S, Yamakawa K.

Hum Mol Genet. 2013 Dec 1;22(23):4784-804. doi: 10.1093/hmg/ddt331. Epub 2013 Aug 6.

12.

Omega-shaped variant of the umbilical artery: prenatal diagnosis and outcome.

Shen O, Rabinowitz R, Malinger G, Mazaki E, Tsafrir A.

J Ultrasound Med. 2013 Mar;32(3):541-4.

PMID:
23443196
13.

A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.

Ogiwara I, Nakayama T, Yamagata T, Ohtani H, Mazaki E, Tsuchiya S, Inoue Y, Yamakawa K.

Epilepsia. 2012 Dec;53(12):e200-3. doi: 10.1111/epi.12040. Epub 2012 Nov 13.

14.

Acute encephalopathy in a patient with Dravet syndrome.

Tsuji M, Mazaki E, Ogiwara I, Wada T, Iai M, Okumura A, Yamashita S, Yamakawa K, Osaka H.

Neuropediatrics. 2011 Feb;42(2):78-81. doi: 10.1055/s-0031-1279725. Epub 2011 Jun 6.

PMID:
21647847
15.

Four-vessel umbilical cord.

Avnet H, Shen O, Mazaki E, Yagel S, Daniel-Spiegel E.

Ultrasound Obstet Gynecol. 2011 Nov;38(5):604-6. doi: 10.1002/uog.9045. Epub 2011 Sep 29. No abstract available.

16.

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K.

Hum Mutat. 2010 Jul;31(7):820-9. doi: 10.1002/humu.21275.

PMID:
20506560
17.

Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.

Takayanagi M, Haginoya K, Umehara N, Kitamura T, Numata Y, Wakusawa K, Hino-Fukuyo N, Mazaki E, Yamakawa K, Ohura T, Ohtake M.

Epilepsia. 2010 Sep;51(9):1886-8. doi: 10.1111/j.1528-1167.2010.02600.x.

18.

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.

Neurology. 2009 Sep 29;73(13):1046-53. doi: 10.1212/WNL.0b013e3181b9cebc.

19.

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.

Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK, Yamakawa K.

J Neurosci. 2007 May 30;27(22):5903-14.

20.

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K.

Epilepsy Res. 2007 Jun;75(1):46-51. Epub 2007 May 15.

PMID:
17507202
21.

SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy.

Morimoto M, Mazaki E, Nishimura A, Chiyonobu T, Sawai Y, Murakami A, Nakamura K, Inoue I, Ogiwara I, Sugimoto T, Yamakawa K.

Epilepsia. 2006 Oct;47(10):1732-6.

22.

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.

Singh B, Ogiwara I, Kaneda M, Tokonami N, Mazaki E, Baba K, Matsuda K, Inoue Y, Yamakawa K.

Neurobiol Dis. 2006 Nov;24(2):245-53. Epub 2006 Aug 24.

PMID:
16934482
23.

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.

Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K.

J Neurosci. 2004 Mar 17;24(11):2690-8.

24.

Lack of anti-D in women at birth following antepartum immune globulin prophylaxis.

Rudensky B, Mazaki E, Na'amad M, Samueloff A.

Eur J Obstet Gynecol Reprod Biol. 2003 Mar 26;107(1):45-6.

PMID:
12593893

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