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Items: 1 to 20 of 234

1.

Digenic mutations in severe myoclonic epilepsy of infancy.

Bolszak M, Anttonen AK, Komulainen T, Hinttala R, Pakanen S, Sormunen R, Herva R, Lehesjoki AE, Majamaa K, Rantala H, Uusimaa J.

Epilepsy Res. 2009 Aug;85(2-3):300-4. doi: 10.1016/j.eplepsyres.2009.03.004. Epub 2009 Apr 9.

PMID:
19359143
2.

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.

Neurology. 2003 Sep 23;61(6):765-9.

PMID:
14504318
3.

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

Gennaro E, Veggiotti P, Malacarne M, Madia F, Cecconi M, Cardinali S, Cassetti A, Cecconi I, Bertini E, Bianchi A, Gobbi G, Zara F.

Epileptic Disord. 2003 Mar;5(1):21-5.

4.

Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.

Fujiwara T.

Epilepsy Res. 2006 Aug;70 Suppl 1:S223-30. Epub 2006 Jun 27. Review.

PMID:
16806826
5.

[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].

Sun H, Zhang Y, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):121-7. doi: 10.3760/cma.j.issn.1003-9406.2009.02.001. Chinese.

PMID:
19350499
6.

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT.

Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489.

PMID:
18413471
7.

[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].

Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, Herczegfalvi A, Fogarasi A.

Ideggyogy Sz. 2008 Nov 30;61(11-12):402-8. Hungarian.

PMID:
19070316
8.

Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy.

Marini C, Mei D, Helen Cross J, Guerrini R.

Epilepsia. 2006 Oct;47(10):1737-40.

9.

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR.

Hum Mutat. 2006 Sep;27(9):914-20.

PMID:
16865694
10.

Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases.

Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M.

Epilepsy Res. 2008 Sep;81(1):69-79. doi: 10.1016/j.eplepsyres.2008.04.018. Epub 2008 Jun 9.

PMID:
18539002
11.

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.

Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S.

Arch Neurol. 2003 Oct;60(10):1445-7. Erratum in: Arch Neurol. 2004 Jan;61(1):29.

PMID:
14568816
12.

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S.

Epilepsia. 2004 Feb;45(2):140-8.

13.

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A.

J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68.

PMID:
16896309
14.

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

Zsurka G, Hampel KG, Nelson I, Jardel C, Mirandola SR, Sassen R, Kornblum C, Marcorelles P, Lavoué S, Lombès A, Kunz WS.

Neurology. 2010 Feb 9;74(6):507-12. doi: 10.1212/WNL.0b013e3181cef7ab.

PMID:
20142618
15.

Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation.

Dinopoulos A, Smeitink J, ter Laak H.

Acta Neuropathol. 2005 Aug;110(2):199-202. Epub 2005 Jun 25. No abstract available.

PMID:
15981016
16.

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E.

Hum Mutat. 2006 Apr;27(4):389.

PMID:
16541393
17.

Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.

Zsurka G, Baron M, Stewart JD, Kornblum C, Bös M, Sassen R, Taylor RW, Elger CE, Chinnery PF, Kunz WS.

J Neuropathol Exp Neurol. 2008 Sep;67(9):857-66. doi: 10.1097/NEN.0b013e3181839b2d.

PMID:
18716558
18.

Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.

Bortot B, Barbi E, Biffi S, Lunazzi G, Bussani R, Burlina A, Norbedo S, Ventura A, Carrozzi M, Severini GM.

Dig Liver Dis. 2009 Jul;41(7):494-9. doi: 10.1016/j.dld.2008.11.013. Epub 2009 Feb 4.

PMID:
19195941
19.

Phenotypic variations in 3 children with POLG1 mutations.

Burusnukul P, de los Reyes EC.

J Child Neurol. 2009 Apr;24(4):482-6. doi: 10.1177/0883073808324539. Epub 2009 Feb 2.

PMID:
19189930
20.

Clinical spectrum of SCN1A mutations.

Gambardella A, Marini C.

Epilepsia. 2009 May;50 Suppl 5:20-3. doi: 10.1111/j.1528-1167.2009.02115.x. Review.

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