Antonio Falace
University of Florence
23 Papers
230 Citations
Antonio Falace is an academic researcher from University of Florence. The author has contributed to research in topics: Epilepsy & Missense mutation. The author has an hindex of 13, co-authored 20 publications. Previous affiliations of Antonio Falace include Aix-Marseille University & French Institute of Health and Medical Research.
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Papers
TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy
Antonio Falace,Fabia Filipello,Veronica La Padula,Nicola Vanni,Francesca Madia,Davide De Pietri Tonelli,Fabrizio A. de Falco,Pasquale Striano,Franca Dagna Bricarelli,Carlo Minetti,Fabio Benfenati,Anna Fassio,Federico Zara +12 more
TL;DR: A gene mutation involved in autosomal-recessive idiopathic epilepsy is identified, the involvement of ARF6-dependent molecular pathway in brain hyperexcitability and seizures is unveiled, and the emerging role of subtle cytoarchitectural alterations in the etiology of this group of common epileptic disorders is confirmed.
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Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy
Mathieu Milh,Antonio Falace,Nathalie Villeneuve,Nicola Vanni,Pierre Cacciagli,Pierre Cacciagli,Stefania Assereto,Rima Nabbout,Fabio Benfenati,Federico Zara,Brigitte Chabrol,Brigitte Chabrol,Laurent Villard,Laurent Villard,Anna Fassio,Anna Fassio +15 more
TL;DR: A familial form of MMPSI due to mutation in TBC1D24 is described, revealing a devastating epileptic phenotype associated with TBC 1D24 dysfunction.
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TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
Simona Balestrini,Simona Balestrini,Simona Balestrini,Mathieu Milh,C. Castiglioni,Kevin Lüthy,Mattéa J. Finelli,Patrik Verstreken,Aaron L. Cardon,Barbara Gnidovec Stražišar,J. Lloyd Holder,Gaetan Lesca,Maria Margherita Mancardi,Anne Lise Poulat,Gabriela M. Repetto,Siddharth Banka,Leonilda Bilo,Laura E. Birkeland,Friedrich Bosch,Knut Brockmann,J. Helen Cross,Diane Doummar,Têmis Maria Félix,Fabienne Giuliano,Mutsuki Hori,Irina Hüning,Hulia Kayserili,Usha Kini,Melissa Lees,Girish Meenakshi,Leena Mewasingh,Alistair T. Pagnamenta,Silvio Peluso,Antje Mey,Gregory M. Rice,Jill A. Rosenfeld,Jenny C. Taylor,Matthew M. Troester,Christine M. Stanley,Dorothée Ville,Magdalena Walkiewicz,Antonio Falace,Anna Fassio,Johannes R. Lemke,Saskia Biskup,Jessica Tardif,Norbert F. Ajeawung,Aslıhan Tolun,Mark A. Corbett,Jozef Gecz,Zaid Afawi,Katherine B. Howell,Katherine B. Howell,Karen Oliver,Samuel F. Berkovic,Ingrid E. Scheffer,Ingrid E. Scheffer,Fabrizio A. de Falco,Peter L. Oliver,Pasquale Striano,Federico Zara,Phillipe M. Campeau,Sanjay M. Sisodiya,Sanjay M. Sisodiya +63 more
TL;DR: TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness, benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death.
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POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Roberta Biancheri,Antonio Falace,Alessandra Tessa,Marina Pedemonte,Sara Scapolan,Denise Cassandrini,Chiara Aiello,Andrea Rossi,Paolo Broda,Federico Zara,Filippo M. Santorelli,Carlo Minetti,Claudio Bruno +12 more
TL;DR: A POMT2 homozygous missense mutation is identified in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement.
98
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway
Antonio Falace,Emmanuelle Buhler,Emmanuelle Buhler,Manuela Fadda,Françoise Watrin,Françoise Watrin,Pellegrino Lippiello,Emilie Pallesi-Pocachard,Emilie Pallesi-Pocachard,Pietro Baldelli,Fabio Benfenati,Federico Zara,Alfonso Represa,Alfonso Represa,Anna Fassio,Carlos Cardoso,Carlos Cardoso +16 more
TL;DR: It is reported here that in utero TBC1D24 knockdown in the rat developing neocortex affects the multipolar-bipolar transition of neurons leading to delayed radial migration, and in vivo, overexpression of the dominant-negative form of ARF6 rescues the neuronal migration and dendritic outgrowth defects induced by T BC1D 24 knockdown, suggesting that TBC 1D24 prevents ARF 6 activation.
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