Article
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Neurology - 5 Jul 2016
Balestrini Simona, Milh Mathieu, Castiglioni Claudia, Lüthy Kevin, Finelli Mattea J, Verstreken Patrik, Cardon Aaron, Stražišar Barbara Gnidovec, Holder J Lloyd, Lesca Gaetan, Mancardi Maria M, Poulat Anne L, Repetto Gabriela M, Banka Siddharth, Bilo Leonilda, Birkeland Laura E, Bosch Friedrich, Brockmann Knut, Cross J Helen, Doummar Diane, Félix Temis M, Giuliano Fabienne, Hori Mutsuki, Hüning Irina, Kayserili Hulia, Kini Usha, Lees Melissa M, Meenakshi Girish, Mewasingh Leena, Pagnamenta Alistair T, Peluso Silvio, Mey Antje, Rice Gregory M, Rosenfeld Jill A, Taylor Jenny C, Troester Matthew M, Stanley Christine M, Ville Dorothee, Walkiewicz Magdalena, Falace Antonio, Fassio Anna, Lemke Johannes R, Biskup Saskia, Tardif Jessica, Ajeawung Norbert F, Tolun Aslihan, Corbett Mark, Gecz Jozef, Afawi Zaid, Howell Katherine B, Oliver Karen L, Berkovic Samuel F, Scheffer Ingrid E, de Falco Fabrizio A, Oliver Peter L, Striano Pasquale, Zara Federico, Campeau Phillipe M, Sisodiya S M
Abstract excerpt
OBJECTIVE: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS: Forty-eight patients were included (28 men, 20 women, average age 21 years) from 30...
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