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Paper Details

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
BMC Med Genet
23
2017
Ala371Thr, Epileptic encephalopathies, UBA5, UBA5 gene, c.684G, childhood epilepsies, epileptic encephalopathies, epileptic encephalopathy, exon 7, hypomorphic allele, infantile spasms, loss-of-function mutation, neurological disease, p, splice site

Datasets

Release 1.2