论文信息 - Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly - 字舞流文

Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly

C. Spagnoli | C. Fusco | Susanna Rizzi | A. Iodice | G. Salerno | D. Frattini

[1] F. S. Domingues,et al. Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly , 2019, Seizure.

[2] Ming O. Li,et al. SZT2 dictates GATOR control of mTORC1 signalling , 2017, Nature.

[3] Dvir Dahary,et al. Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. , 2013, American journal of human genetics.

[4] C. Mahaffey,et al. Szt2, a novel gene for seizure threshold in mice , 2009, Genes, brain, and behavior.