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autosomal dominant epilepsy with auditory feature, ADEAF相关文献:
Autosomal Dominant Epilepsy with Auditory Features.
Michelucci R, Pasini E, Dazzo E.
2007 Apr 20 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301709
DEPDC5-Related Epilepsy.
Baulac S, Baldassari S.
2016 Sep 29 [updated 2023 Mar 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:27683934
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.
Leonardi E, Dazzo E, Aspromonte MC, Tabaro F, Pascarelli S, Tosatto SCE, Michelucci R, Murgia A, Nobile C.
Epilepsy Res. 2018 Jan;139:51-53. doi: 10.1016/j.eplepsyres.2017.11.006. Epub 2017 Nov 21.
PMID:29179159
Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.
Klein KM, Pendziwiat M, Cohen R, Appenzeller S, de Kovel CG, Rosenow F, Koeleman BP, Kuhlenbäumer G, Sheintuch L, Veksler R, Friedman A, Afawi Z, Helbig I.
J Neurol. 2016 Jan;263(1):11-6. doi: 10.1007/s00415-015-7921-2. Epub 2015 Oct 12.
PMID:26459092
Genetic models of focal epilepsies.
Boillot M, Baulac S.
J Neurosci Methods. 2016 Feb 15;260:132-43. doi: 10.1016/j.jneumeth.2015.06.003. Epub 2015 Jun 11.
PMID:26072248
Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.
Sadleir LG, Agher D, Chabrol E, Elkouby L, Leguern E, Paterson SJ, Harty R, Bellows ST, Berkovic SF, Scheffer IE, Baulac S.
Epilepsy Res. 2013 Dec;107(3):311-7. doi: 10.1016/j.eplepsyres.2013.09.008. Epub 2013 Oct 8.
PMID:24206907
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.
Bisulli F, Licchetta L, Baldassari S, Muccioli L, Marconi C, Cantalupo G, Myers C, Menghi V, Minardi R, Caporali L, Marini C, Guerrini R, Mefford HC, Tinuper P, Pippucci T.
Epileptic Disord. 2019 Apr 1;21(2):185-191. doi: 10.1684/epd.2019.1046.
PMID:30977726
Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures.
Boillot M, Huneau C, Marsan E, Lehongre K, Navarro V, Ishida S, Dufresnois B, Ozkaynak E, Garrigue J, Miles R, Martin B, Leguern E, Anderson MP, Baulac S.
Brain. 2014 Nov;137(Pt 11):2984-96. doi: 10.1093/brain/awu259. Epub 2014 Sep 17.
PMID:25234641
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