current
SZT2:c.73C>T (p.Arg25Ter) AND Early infantile epileptic encephalopathy 18
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a 10-year-old girl, born of unrelated Iraqi Jewish parents, with early infantile epileptic encephalopathy-18 (EIEE18; 615476), Basel-Vanagaite et al. (2013) identified a homozygous c.73C-T transition in exon 2 of the SZT2 gene, resulting in an arg25-to-ter (R25X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the NHLBI Exome Variant Server database or in 143 Iraqi Jewish control individuals. The patient's deceased sib was similarly affected, but DNA was not available.
23932106
SZT2:c.73C>T (p.Arg25Ter)
NM_015284.3:c.73C>T
NG_029091.1:g.18338C>T
NC_000001.10:g.43868893C>T
NP_056099.3:p.Arg25Ter
R25*
ARG25TER
1p34.2
seizure threshold 2 homolog (mouse)
SZT2
Early infantile epileptic encephalopathy 18
EIEE18
current
Pathogenic
germline
human
not provided
curation
In a 10-year-old girl, born of unrelated Iraqi Jewish parents, with early infantile epileptic encephalopathy-18 (EIEE18; 615476), Basel-Vanagaite et al. (2013) identified a homozygous c.73C-T transition in exon 2 of the SZT2 gene, resulting in an arg25-to-ter (R25X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the NHLBI Exome Variant Server database or in 143 Iraqi Jewish control individuals. The patient's deceased sib was similarly affected, but DNA was not available.
23932106
SZT2, ARG25TER
ARG25TER
SZT2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18