scn2a造句
例句與造句
- The second known mutation in SCN2A associated with GEFS + is R102X . This mutation is located in the intracellular N-terminus ( figure 3 ) and results in SMEI in patients.
- Known causative genes for GEFS + are the sodium channel ? subunit genes SCN1A and SCN2A and the ? subunit gene SCN1B . Mutations in the GABA A receptor ? subunit GABRG1 are also causative for this disorder.
- However, a variation with seizure onset between two days and seven months called " benign familial neonatal infantile seizures " ( BFNIS ) has been described, which is due to a mutation in the SCN2A gene.
- Progress in genome and exome sequencing is revealing that some individuals diagnosed with Lennox Gastaut Syndrome have de novo mutations in a variety of genes, including CHD2, GABRB3, ALG13 and SCN2A The Epi4K study consortium ( 2013 ) observed de novo mutations in at least 15 % of a study cohort of 165 patients with LGS and Infantile Spasms using whole exome sequencing.
- It's difficult to find scn2a in a sentence. 用scn2a造句挺難的