Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy. Issue 6 (12th April 2013) - Milh, Mathieu
Abstract We identified novel inherited mutations in TBC1D24 in two siblings affected by Malignant Migrating Partial Seizures of Infancy (MMPSI), a rare devastating early onset epileptic encephalopaties of heterogeneous genetic origin. TBC1D24 is a novel epilepsy gene encoding a neuronal protein known to interact with ARF6 and to regulate neurite development. The pathogenic TBC1D24 variants are located in the ARF6 binding domain and severely impaired TBC1D24 expression and function.