S. Balestrini, M. Milh, C. Castiglioni, K. Lüthy, M. Finelli et al., TBC1D24 genotype -phenotype correlation Epilepsies and other neurologic features, Neurology, vol.87, pp.77-85, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01469059

H. Azaiez, K. T. Booth, F. Bu, P. Huygen, S. B. Shibata et al., TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing Loss, Hum Mutat, vol.35, pp.819-842, 2014.

A. U. Rehman, R. Santos-cortez, R. J. Morell, M. C. Drummond, T. Ito et al., Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86, Am J Human Genet, vol.94, pp.144-52, 2014.

L. Zhang, L. Hu, Y. Chai, X. Pang, T. Yang et al., A Dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment, Hum Mutat, vol.35, pp.814-822, 2014.

M. J. Finelli and P. L. Oliver, TLDc proteins: new players in the oxidative stress response and neurological disease, Mamm Genome, vol.28, pp.395-406, 2017.

B. Fischer, K. Lüthy, J. Paesmans, D. Koninck, C. Maes et al., Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function, Nat Struct Mol Biol, vol.23, pp.965-73, 2016.

V. Uytterhoeven, S. Kuenen, J. Kasprowicz, K. Miskiewicz, and P. Verstreken, Loss of Skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins, Cell, vol.145, pp.117-149, 2011.

A. C. Fernandes, V. Uytterhoeven, S. Kuenen, Y. C. Wang, J. R. Slabbaert et al., Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration, J Cell Biol, vol.207, pp.453-62, 2014.

A. Falace, F. Filipello, L. Padula, V. Vanni, N. Madia et al., TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy, Am J Hum Genet, vol.87, pp.365-70, 2010.

A. Falace, E. Buhler, M. Fadda, F. Watrin, P. Lippiello et al., TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway, Proc Natl Acad Sci, vol.111, pp.2337-2379, 2014.
URL : https://hal.archives-ouvertes.fr/hal-01787600

M. Milh, A. Falace, N. Villeneuve, N. Vanni, P. Cacciagli et al., Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy, Hum Mutat, vol.34, pp.869-72, 2013.
URL : https://hal.archives-ouvertes.fr/hal-01668674

M. J. Finelli, L. Sanchez-pulido, K. X. Liu, K. E. Davies, and P. L. Oliver, The evolutionarily conserved Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) domain is neuroprotective against oxidative stress, J Biol Chem, vol.291, pp.2751-63, 2016.

J. Barry, Y. Gu, P. Jukkola, B. O'neill, H. Gu et al., Ankyrin-G directly binds to kinesin-1 to transport voltage-gated Na + channels into axons, Dev Cell, vol.28, pp.117-148, 2014.

D. A. Mccormick, Y. Shu, and Y. Yu, Neurophysiology: hodgkin and huxley model -still standing?, Nature, vol.445, pp.1-2, 2007.

B. Naundorf, F. Wolf, and M. Volgushev, Unique features of action potential initiation in cortical neurons, Nature, vol.440, pp.1060-1063, 2006.

T. Namba, Y. Kibe, Y. Funahashi, S. Nakamuta, T. Takano et al., Pioneering axons regulate neuronal polarization in the developing cerebral cortex, Neuron, vol.81, pp.814-843, 2014.

J. S. Witteveen, M. H. Willemsen, T. C. Dombroski, N. H. Van-bakel, W. M. Nillesen et al., Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity, Nat Genet, vol.48, pp.877-87, 2016.

D. J. Hernández-deviez, M. G. Roth, J. E. Casanova, and J. M. Wilson, ARNO and ARF6 regulate axonal elongation and branching through downstream activation of phosphatidylinositol 4-phosphate 5-kinase, Mol Biol Cell, vol.15, pp.111-131, 2004.

R. Eva, S. Crisp, J. Marland, J. C. Norman, V. Kanamarlapudi et al., ARF6 directs axon transport and traffic of integrins and regulates axon growth in adult DRG neurons, J Neurosci, vol.32, pp.10352-64, 2012.

E. Franssen, R. Zhao, H. Koseki, V. Kanamarlapudi, C. C. Hoogenraad et al., Exclusion of integrins from CNS axons is regulated by Arf6 activation and the AIS, J Neurosci, vol.35, pp.8359-75, 2015.

E. A. Vitriol and J. Q. Zheng, Growth cone travel in space and time: the cellular ensemble of cytoskeleton, adhesion, and membrane, Neuron, vol.73, pp.1068-81, 2012.

R. Sivadasan, D. Hornburg, C. Drepper, N. Frank, S. Jablonka et al., C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons, Nat Neurosci, vol.19, pp.1610-1618, 2016.

S. Bellani, A. Mescola, G. Ronzitti, H. Tsushima, S. Tilve et al., GRP78 clustering at the cell surface of neurons transduces the action of exogenous alpha-synuclein, Cell Death Differ, vol.21, pp.1971-83, 2014.

N. Ageta-ishihara, T. Miyata, C. Ohshima, M. Watanabe, Y. Sato et al., Septins promote dendrite and axon development by negatively regulating microtubule stability via HDAC6-mediated deacetylation, Nat Commun, vol.4, pp.1-11, 2013.

D. Bonanomi, E. F. Fornasiero, G. Valdez, S. Halegoua, A. Menegon et al., Identification of a developmentally regulated pathway of membrane retrieval in neuronal growth cones, J Cell Sci, vol.121, pp.3757-69, 2009.

F. Fruscione, P. Valente, B. Sterlini, A. Romei, S. Baldassari et al., PRRT2 controls neuronal excitability by negatively modulating Na + channel 1.2/1.6 activity. Brain, vol.141, pp.1000-1016, 2018.

P. M. Campeau, D. Kasperaviciute, J. T. Lu, L. C. Burrage, C. Kim et al., The genetic basis of DOORS syndrome: an exomesequencing study, Lancet Neurol, vol.13, pp.44-58, 2014.

R. Lozano, K. Herman, M. Rothfuss, H. Rieger, P. Bayrak-toydemir et al., Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations, Am J Med Genet, Part A, vol.170, pp.3207-3221, 2016.

M. A. Corbett, M. Bahlo, L. Jolly, Z. Afawi, A. E. Gardner et al., A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24, Am J Hum Genet, vol.87, pp.371-376, 2010.

J. Yin, W. Chen, E. S. Chao, S. Soriano, L. Wang et al., Otud7a knockout mice recapitulate many neurological features of 15q13.3 microdeletion syndrome, Am J Human Genet, vol.102, pp.296-308, 2018.

S. Weckhuysen, S. Mandelstam, A. Suls, D. Audenaert, T. Deconinck et al., Emerging phenotype of a neonatal epileptic encephalopathy, Ann Neurol, vol.71, pp.15-25, 2012.

F. Miceli, M. V. Soldovieri, P. Ambrosino, D. Maria, M. Migliore et al., Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits, J Neurosci, vol.35, pp.3782-93, 2015.

J. Devaux, A. Abidi, A. Roubertie, F. Molinari, H. Becq et al., A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity, Epilepsia, vol.57, pp.87-93, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01668018

Y. Miura, T. Hongu, Y. Yamauchi, Y. Funakoshi, N. Katagiri et al., ACAP3 regulates neurite outgrowth through its GAP activity specific to Arf6 in mouse hippocampal neurons, Biochem J, vol.473, pp.2591-602, 2016.

J. G. Donaldson and C. L. Jackson, ARF family G proteins and their regulators: roles in membrane transport, development and disease, Nat Rev Mol Cell Biol, vol.12, pp.362-75, 2011.

O. Paleotti, E. Macia, F. Luton, S. Klein, M. Partisani et al., The small G-protein Arf6GTPrecruits the AP-2 adaptor complex to membranes, J Biol Chem, vol.280, pp.21661-21667, 2005.

J. W. Kyung, I. H. Cho, S. Lee, W. K. Song, T. A. Ryan et al., Adaptor Protein 2 (AP-2) complex is essential for functional axogenesis in hippocampal neurons, Sci Rep, vol.7, p.41620, 2017.

J. F. Krey, R. A. Dumont, P. A. Wilmarth, L. L. David, K. R. Johnson et al., ELMOD1 stimulates ARF6-GTP hydrolysis to stabilize apical structures in developing vestibular hair cells, J Neurosci, vol.38, pp.843-57, 2018.

M. J. Finelli, D. Aprile, E. Castroflorio, A. Jeans, M. Moschetta et al., The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons, Hum Mol Genet, vol.28, pp.584-97, 2018.

R. Tona, W. Chen, Y. Nakano, L. D. Reyes, R. S. Petralia et al., The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy, Hum Mol Genet, 2019.

E. Tagliatti, M. Fadda, A. Falace, F. Benfenati, and A. Fassio, Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse, eLife, vol.5, pp.1-18, 2016.

M. W. Pfaffl, A new mathematical model for relative quantification in real-time RT-PCR, Nucleic Acids Res, vol.29, pp.45-45, 2001.

P. Valente, G. Lignani, L. Medrihan, F. Bosco, A. Contestabile et al., Cell adhesion molecule L1 contributes to neuronal excitability regulating the function of voltage-gated Na + channels, J Cell Sci, vol.129, pp.1878-91, 2016.

B. P. Bean, The action potential in mammalian central neurons, Nat Rev Neurosci, vol.8, pp.451-65, 2007.

Y. Shu, A. Duque, Y. Yu, B. Haider, and D. A. Mccormick, Properties of action-potential initiation in neocortical pyramidal cells: evidence from whole cell axon recordings, J Neurophysiol, vol.97, pp.746-60, 2007.