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Items: 1 to 20 of 127

1.

A case of recurrent acute encephalopathy with febrile convulsive status epilepticus with carnitine palmitoyltransferase II variation.

Sakai E, Yamanaka G, Kawashima H, Morishima Y, Ishida Y, Oana S, Miyajima T, Shinohara M, Saitoh M, Mizuguchi M.

Neuropediatrics. 2013 Aug;44(4):218-21. doi: 10.1055/s-0032-1333439. Epub 2013 Feb 28.

PMID:
23450341
3.

[Acute encephalopathy with febrile convulsive status epilepticus (AEFCSE)].

Yamanouchi H.

Nihon Rinsho. 2011 Mar;69(3):471-6. Japanese.

PMID:
21400841
4.

Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children.

Kubota M, Chida J, Hoshino H, Ozawa H, Koide A, Kashii H, Koyama A, Mizuno Y, Hoshino A, Yamaguchi M, Yao D, Yao M, Kido H.

Brain Dev. 2012 Jan;34(1):20-7. doi: 10.1016/j.braindev.2010.12.012. Epub 2011 Jan 28.

PMID:
21277129
5.

Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.

Chen Y, Mizuguchi H, Yao D, Ide M, Kuroda Y, Shigematsu Y, Yamaguchi S, Yamaguchi M, Kinoshita M, Kido H.

FEBS Lett. 2005 Apr 11;579(10):2040-4.

6.

Bezafibrate upregulates carnitine palmitoyltransferase II expression and promotes mitochondrial energy crisis dissipation in fibroblasts of patients with influenza-associated encephalopathy.

Yao M, Yao D, Yamaguchi M, Chida J, Yao D, Kido H.

Mol Genet Metab. 2011 Nov;104(3):265-72. doi: 10.1016/j.ymgme.2011.07.009. Epub 2011 Jul 20.

8.

Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.

Shinohara M, Saitoh M, Takanashi J, Yamanouchi H, Kubota M, Goto T, Kikuchi M, Shiihara T, Yamanaka G, Mizuguchi M.

Brain Dev. 2011 Jun;33(6):512-7. doi: 10.1016/j.braindev.2010.09.002. Epub 2010 Oct 12.

PMID:
20934285
9.

Cortical gray matter lesions in acute encephalopathy with febrile convulsive status epilepticus.

Sato A, Mizuguchi M, Mimaki M, Takahashi K, Jimi H, Oka A, Igarashi T.

Brain Dev. 2009 Sep;31(8):622-4. doi: 10.1016/j.braindev.2008.08.015. Epub 2008 Oct 10.

PMID:
18848752
10.

Atypical presentation of carnitine palmitoyltransferase (CPT) deficiency as status epilepticus.

Shintani S, Shiigai T, Sugiyama N.

J Neurol Sci. 1995 Mar;129(1):69-73.

PMID:
7751848
11.

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.

Mak CM, Lam CW, Fong NC, Siu WK, Lee HC, Siu TS, Lai CK, Law CY, Tong SF, Poon WT, Lam DS, Ng HL, Yuen YP, Tam S, Que TL, Kwong NS, Chan AY.

J Hum Genet. 2011 Aug;56(8):617-21. doi: 10.1038/jhg.2011.63. Epub 2011 Jun 23.

PMID:
21697855
12.

Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.

Yao D, Mizuguchi H, Yamaguchi M, Yamada H, Chida J, Shikata K, Kido H.

Hum Mutat. 2008 May;29(5):718-27. doi: 10.1002/humu.20717.

PMID:
18306170
13.

Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.

Kobayashi Y, Ishikawa N, Tsumura M, Fujii Y, Okada S, Shigematsu Y, Kobayashi M.

Brain Dev. 2013 May;35(5):449-53. doi: 10.1016/j.braindev.2012.06.013. Epub 2012 Jul 31.

PMID:
22854105
14.

Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy.

Yamamoto T, Tanaka H, Emoto Y, Umehara T, Fukahori Y, Kuriu Y, Matoba R, Ikematsu K.

Brain Dev. 2014 Jun;36(6):479-83. doi: 10.1016/j.braindev.2013.07.011. Epub 2013 Aug 19.

PMID:
23969168
15.

[A concept of acute encephalopathy with febrile convulsive status epilepticus (AEFCSE) and theophylline as one of its precipitating causes].

Shiomi M, Ishikawa J, Togawa M, Okazaki S, Kuki I, Kimura S, Kawawaki H.

No To Hattatsu. 2008 Mar;40(2):122-7. Japanese. No abstract available.

PMID:
18341050
16.

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.

17.

Drugs indicated for mitochondrial dysfunction as treatments for acute encephalopathy with onset of febrile convulsive status epileptics.

Omata T, Fujii K, Takanashi J, Murayama K, Takayanagi M, Muta K, Kodama K, Iida Y, Watanabe Y, Shimojo N.

J Neurol Sci. 2016 Jan 15;360:57-60. doi: 10.1016/j.jns.2015.11.043. Epub 2015 Nov 24.

18.

Pandemic influenza A-associated acute necrotizing encephalopathy without neurologic sequelae.

Kumakura A, Iida C, Saito M, Mizuguchi M, Hata D.

Pediatr Neurol. 2011 Nov;45(5):344-6. doi: 10.1016/j.pediatrneurol.2011.08.004.

PMID:
22000319
19.

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K.

Hum Mutat. 1998;11(5):377-86.

PMID:
9600456
20.

[Identification of missense mutations and haplotyping of carnitine palmitoyltransferase II gene].

Akanuma J, Wataya K, Matsubara Y, Narisawa K.

Nihon Rinsho. 1997 Dec;55(12):3297-301. Review. Japanese.

PMID:
9436454

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