Yamakawa K - Search Results

1

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y. Fujiwara T, et al. Among authors: yamakawa k. Brain. 2003 Mar;126(Pt 3):531-46. doi: 10.1093/brain/awg053. Brain. 2003. PMID: 12566275

2

Genetic abnormalities underlying familial epilepsy syndromes.

Hirose S, Okada M, Yamakawa K, Sugawara T, Fukuma G, Ito M, Kaneko S, Mitsudome A. Hirose S, et al. Among authors: yamakawa k. Brain Dev. 2002 Jun;24(4):211-22. doi: 10.1016/s0387-7604(02)00056-6. Brain Dev. 2002. PMID: 12015163 Review.

3

Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.

Suzuki T, Morita R, Sugimoto Y, Sugawara T, Bai DS, Alonso ME, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Delgado-Escueta AV, Yamakawa K. Suzuki T, et al. Among authors: yamakawa k. Epilepsy Res. 2002 Aug;50(3):265-75. doi: 10.1016/s0920-1211(02)00052-9. Epilepsy Res. 2002. PMID: 12200217

4

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

Sugawara T, Tsurubuchi Y, Fujiwara T, Mazaki-Miyazaki E, Nagata K, Montal M, Inoue Y, Yamakawa K. Sugawara T, et al. Among authors: yamakawa k. Epilepsy Res. 2003 May;54(2-3):201-7. doi: 10.1016/s0920-1211(03)00084-6. Epilepsy Res. 2003. PMID: 12837571

5

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. Kamiya K, et al. Among authors: yamakawa k. J Neurosci. 2004 Mar 17;24(11):2690-8. doi: 10.1523/JNEUROSCI.3089-03.2004. J Neurosci. 2004. PMID: 15028761 Free PMC article.

6

Mutations in EFHC1 cause juvenile myoclonic epilepsy.

Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K. Suzuki T, et al. Among authors: yamakawa k. Nat Genet. 2004 Aug;36(8):842-9. doi: 10.1038/ng1393. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258581

7

Seizure phenotypes of a family with missense mutations in SCN2A.

Ito M, Shirasaka Y, Hirose S, Sugawara T, Yamakawa K. Ito M, et al. Among authors: yamakawa k. Pediatr Neurol. 2004 Aug;31(2):150-2. doi: 10.1016/j.pediatrneurol.2004.02.013. Pediatr Neurol. 2004. PMID: 15301839

8

Epilepsy and sodium channel gene mutations: gain or loss of function?

Yamakawa K. Yamakawa K. Neuroreport. 2005 Jan 19;16(1):1-3. doi: 10.1097/00001756-200501190-00001. Neuroreport. 2005. PMID: 15618878 Review.

9

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.

Nagao Y, Mazaki-Miyazaki E, Okamura N, Takagi M, Igarashi T, Yamakawa K. Nagao Y, et al. Among authors: yamakawa k. Epilepsy Res. 2005 Feb;63(2-3):151-6. doi: 10.1016/j.eplepsyres.2004.11.005. Epilepsy Res. 2005. PMID: 15715999

10

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

Singh S, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S. Singh S, et al. Among authors: yamakawa k. J Hum Genet. 2005;50(7):347-352. doi: 10.1007/s10038-005-0263-7. Epub 2005 Jul 15. J Hum Genet. 2005. PMID: 16021330

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,131 results

Search Page

Filters