Publication | Open Access

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

New Candidate GenesMendelian DisorderGenetic DisorderExome SequencingGeneticsCongenital AtaxiasNeuroscienceNeurologyDisease Gene IdentificationNeuropathologyMedicineImaging GenomicsNeurogenetics