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Year | Number of Results |
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2000 | 1 |
2010 | 2 |
2013 | 1 |
2024 | 0 |
PubMed (cited) for id: 605021
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TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.
Epilepsy Res. 2013 Jul;105(1-2):240-4. doi: 10.1016/j.eplepsyres.2013.02.005. Epub 2013 Mar 19.
Epilepsy Res. 2013.
PMID: 23517570
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J.
Corbett MA, et al.
Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001.
Am J Hum Genet. 2010.
PMID: 20797691
Free PMC article.
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TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F.
Falace A, et al.
Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19.
Am J Hum Genet. 2010.
PMID: 20727515
Free PMC article.
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Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.
Zara F, Gennaro E, Stabile M, Carbone I, Malacarne M, Majello L, Santangelo R, de Falco FA, Bricarelli FD.
Zara F, et al.
Am J Hum Genet. 2000 May;66(5):1552-7. doi: 10.1086/302876. Epub 2000 Mar 30.
Am J Hum Genet. 2000.
PMID: 10741954
Free PMC article.
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