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Items: 1 to 20 of 444

1.

Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

Michelucci R, Pasini E, Malacrida S, Striano P, Bonaventura CD, Pulitano P, Bisulli F, Egeo G, Santulli L, Sofia V, Gambardella A, Elia M, de Falco A, Neve Al, Banfi P, Coppola G, Avoni P, Binelli S, Boniver C, Pisano T, Marchini M, Dazzo E, Fanciulli M, Bartolini Y, Riguzzi P, Volpi L, de Falco FA, Giallonardo AT, Mecarelli O, Striano S, Tinuper P, Nobile C.

Epilepsia. 2013 Jul;54(7):1288-97. doi: 10.1111/epi.12194.

2.

Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras.

Dazzo E, Santulli L, Posar A, Fattouch J, Conti S, Lodén-van Straaten M, Mijalkovic J, De Bortoli M, Rosa M, Millino C, Pacchioni B, Di Bonaventura C, Giallonardo AT, Striano S, Striano P, Parmeggiani A, Nobile C.

Epilepsy Res. 2015 Feb;110:132-8. doi: 10.1016/j.eplepsyres.2014.12.004.

PMID:
25616465
3.

LGI1 microdeletion in autosomal dominant lateral temporal epilepsy.

Fanciulli M, Santulli L, Errichiello L, Barozzi C, Tomasi L, Rigon L, Cubeddu T, de Falco A, Rampazzo A, Michelucci R, Uzzau S, Striano S, de Falco FA, Striano P, Nobile C.

Neurology. 2012 Apr 24;78(17):1299-303. doi: 10.1212/WNL.0b013e3182518328.

4.

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation.

Pisano T, Marini C, Brovedani P, Brizzolara D, Pruna D, Mei D, Moro F, Cianchetti C, Guerrini R.

Epilepsia. 2005 Jan;46(1):118-23.

5.

Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene.

Hedera P, Abou-Khalil B, Crunk AE, Taylor KA, Haines JL, Sutcliffe JS.

Epilepsia. 2004 Mar;45(3):218-22.

6.

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.

Michelucci R, Poza JJ, Sofia V, de Feo MR, Binelli S, Bisulli F, Scudellaro E, Simionati B, Zimbello R, D'Orsi G, Passarelli D, Avoni P, Avanzini G, Tinuper P, Biondi R, Valle G, Mautner VF, Stephani U, Tassinari CA, Moschonas NK, Siebert R, Lopez de Munain A, Perez-Tur J, Nobile C.

Epilepsia. 2003 Oct;44(10):1289-97.

7.

Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families.

Kawamata J, Ikeda A, Fujita Y, Usui K, Shimohama S, Takahashi R.

Epilepsia. 2010 Apr;51(4):690-3. doi: 10.1111/j.1528-1167.2009.02309.x.

8.

Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.

Berghuis B, Brilstra EH, Lindhout D, Baulac S, de Haan GJ, van Kempen M.

Epilepsy Behav. 2013 Jul;28(1):41-6. doi: 10.1016/j.yebeh.2013.03.032.

PMID:
23651915
9.

[Clinical characteristics and LGI1 gene mutation analysis on an autosomal dominant lateral temporal lobe epilepsy].

Xi ZQ, Wang XF, Lü Y, Wang L, Xiao F, Guan LF.

Zhonghua Yi Xue Za Zhi. 2009 Jan 20;89(3):195-7. Chinese.

PMID:
19537038
10.

A newly discovered LGI1 mutation in Korean family with autosomal dominant lateral temporal lobe epilepsy.

Lee MK, Kim SW, Lee JH, Cho YJ, Kim DE, Lee BI, Kim HM, Lee MG, Heo K.

Seizure. 2014 Jan;23(1):69-73. doi: 10.1016/j.seizure.2013.10.001.

11.

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P.

Hum Mutat. 2009 Apr;30(4):530-6. doi: 10.1002/humu.20925. Review.

PMID:
19191227
12.

Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.

Fanciulli M, Pasini E, Malacrida S, Striano P, Striano S, Michelucci R, Ottman R, Nobile C.

Epilepsia. 2014 Oct;55(10):1651-8. doi: 10.1111/epi.12767.

13.

Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.

Striano P, Gambardella A, Coppola A, Di Bonaventura C, Bovo G, Diani E, Boaretto F, Egeo G, Ciampa C, Labate A, Testoni S, Passarelli D, Manna I, Sferro C, Aguglia U, Caranci F, Giallonardo AT, Striano S, Nobile C, Michelucci R.

J Neurol. 2008 Jan;255(1):16-23.

PMID:
18004642
14.

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.

Gu W, Brodtkorb E, Steinlein OK.

Ann Neurol. 2002 Sep;52(3):364-7.

PMID:
12205652
15.

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.

Flex E, Pizzuti A, Di Bonaventura C, Douzgou S, Egeo G, Fattouch J, Manfredi M, Dallapiccola B, Giallonardo AT.

J Neurol. 2005 Jan;252(1):62-6.

PMID:
15654555
16.

[Clinical features in a Japanese patient with autosomal dominant lateral temporal epilepsy having LGI1 mutation].

Fujita Y, Ikeda A, Kadono K, Kawamata J, Tomimoto H, Fukuyama H, Takahashi R.

Rinsho Shinkeigaku. 2009 Apr;49(4):186-90. Japanese.

PMID:
19462817
17.

LGI1 mutations in temporal lobe epilepsies.

Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC.

Neurology. 2004 Apr 13;62(7):1115-9.

PMID:
15079010
18.

Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.

Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B.

Neurology. 2007 Jun 12;68(24):2107-12.

PMID:
17377072
19.

Lateral temporal lobe epilepsies: clinical and genetic features.

Michelucci R, Pasini E, Nobile C.

Epilepsia. 2009 May;50 Suppl 5:52-4. doi: 10.1111/j.1528-1167.2009.02122.x. Review.

20.

Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation.

Kesim YF, Uzun GA, Yucesan E, Tuncer FN, Ozdemir O, Bebek N, Ozbek U, Iseri SA, Baykan B.

Epilepsy Res. 2016 Feb;120:73-8. doi: 10.1016/j.eplepsyres.2015.12.006.

PMID:
26773249
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