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SZT2 gene

Known as: KIAA0467, SZT2, seizure threshold 2 homolog (mouse) 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.
Developmental and epileptic encephalopathy is a group of conditions characterized by the co-occurrence of epilepsy and… 
2018
2018
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.
Because biallelic SZT2 variants have been reported in patients with neurodevelopmental disorders associated with various degrees… 
2018
2018
Author Correction: SZT2 dictates GATOR control of mTORC1 signalling
In the originally published version of this Letter, there was an error in Extended Data Fig. 7e and the corresponding uncropped… 
2017
2017
A patient of early EIEE with compound heterozygous variant in SZT2 (Seizure Threshold 2)
2017
2017
Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy
The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that is associated with epileptogenesis. In mice… 
1988
1988
A new method for detecting anaerobic threshold from heart rate recording
The authors detect the anerobic threshold (AT) only from heart rate (HR) recording. Ten subjects performed 13-min cycle exercise… 
1986
1986
Growth of pulsation threshold of a suppressed tone as a function of its level.
The pulsation threshold (PT) was measured at the frequency of a probe tone in a two-tone stimulus. A suppressor tone was higher… 
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