Variant: rs796053403 

    present in Gene: TBC1D24
    present in Chromosome: 16
    Position on Chromosome: 2496622
    Alleles of this Variant: C/-

rs796053403 in TBC1D24 gene and Movement Disorders PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 28663785 2017 Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.

PMID 24387994 2014 Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 26207815 2015 A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

PMID 27541164 2016 Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

PMID 24469796 2014 TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.

PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.