A Novel HomozygousTBC1D24Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

(2013) Zaid Afawi et al.   EPILEPSY RESEARCH

Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy

(2013) Mathieu Milh et al.   HUMAN MUTATION

TBC1D24truncating mutation resulting in severe neurodegeneration

(2013) Ayse Guven et al.   JOURNAL OF MEDICAL GENETICS

The genetic basis of DOORS syndrome: an exome-sequencing study

(2013) Philippe M Campeau et al.   LANCET NEUROLOGY

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

(2010) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

(2010) Antonio Falace et al.   AMERICAN JOURNAL OF HUMAN GENETICS