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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2004 | 1 |
2011 | 1 |
2018 | 1 |
2021 | 2 |
2024 | 0 |
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5 results
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Page 1
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.
J Med Genet. 2004 Mar;41(3):183-6. doi: 10.1136/jmg.2003.013680.
J Med Genet. 2004.
PMID: 14985377
Free PMC article.
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, Mottron L, Valtorta F, Khoa Nguyen D, Rouleau GA, Benfenati F, Cossette P.
Fassio A, et al.
Hum Mol Genet. 2011 Jun 15;20(12):2297-307. doi: 10.1093/hmg/ddr122. Epub 2011 Mar 25.
Hum Mol Genet. 2011.
PMID: 21441247
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Hot water epilepsy and SYN1 variants.
Peron A, Baratang NV, Canevini MP, Campeau PM, Vignoli A.
Peron A, et al.
Epilepsia. 2018 Nov;59(11):2162-2163. doi: 10.1111/epi.14572.
Epilepsia. 2018.
PMID: 30390306
No abstract available.
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Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Accogli A, Wiegand G, Scala M, Cerminara C, Iacomino M, Riva A, Carlini B, Camerota L, Belcastro V, Prontera P, Fernández-Jaén A, Bebek N, Scudieri P, Baldassari S, Salpietro V, Novelli G, De Luca C, von Stülpnagel C, Kluger F, Kluger GJ, Wohlrab GC, Ramantani G, Lewis-Smith D, Thomas RH, Lai M, Verrotti A, Striano S, Depienne C, Minetti C, Benfenati F, Brancati F, Zara F, Striano P.
Accogli A, et al.
Neurology. 2021 Aug 10;97(6):e577-e586. doi: 10.1212/WNL.0000000000012298. Epub 2021 Jun 2.
Neurology. 2021.
PMID: 34078716
Free PMC article.
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Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.
Xiong J, Duan H, Chen S, Kessi M, He F, Deng X, Zhang C, Yang L, Peng J, Yin F.
Xiong J, et al.
BMC Med Genomics. 2021 Jul 9;14(1):182. doi: 10.1186/s12920-021-01028-4.
BMC Med Genomics. 2021.
PMID: 34243774
Free PMC article.
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