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Acta Neurologica Belgica

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01-04-2020 | Letter to the Editor

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16

Authors: Michele Salemi, Francesco Cali’, Mariaconcetta Giambirtone, Maurizio Elia, Corrado Romano

Published in: Acta Neurologica Belgica | Issue 2/2020

Excerpt

Dear Editor, …

Poulat AL, Ville D, de Bellescize J, André-Obadia N, Cacciagli P, Milh M, Villard L, Lesca G (2015) Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. Epilepsy Res 111:72–77CrossRef

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 (2010) TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet 87:365–370CrossRef

Guven A, Tolun A (2013) TBC1D24 truncating mutation resulting in severe neurodegeneration. J Med Genet 50:199–202CrossRef

Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A (2013) Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum Mutat 34:869–872CrossRef

Salemi M, Barone C, Romano C, Grazia Salluzzo M, Galati Rando RG, Scavuzzo C, Salluzzo R, Russo R, Giambirtone M, Scillato F, Romano C (2015) Cytochrome b gene expression in down syndrome subjects. Cell Mol Biol (Noisy-le-grand) 61:6–7

Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative pcr and the 22ddct method. Methods 25:402–408CrossRef

Lozano R, Herman K, Rothfuss M, Rieger H, Bayrak-Toydemir P, Aprile D, Fruscione F, Zara F, Fassio A (2016) Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. Am J Med Genet A 170:3207–3214CrossRef

Title: TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16
Authors: Michele Salemi
Francesco Cali’
Mariaconcetta Giambirtone
Maurizio Elia
Corrado Romano
Publication date: 01-04-2020
Publisher: Springer International Publishing
Published in: Acta Neurologica Belgica / Issue 2/2020
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-017-0818-3

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16

Excerpt

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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