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Table 3 Seven SCN8A (NM_014191.3) mutations identified in our study

From: SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

Patient Mutation Chromosome 12: position Domain Mutation taster PolyPhen-2 Reported/Novel
Patient 1 c. 694 T > C, p.Ser232Pro 52,082,621 DIS4 Disease causing Probably damaging Novel
Patient 2 c.2549G > A, p.Arg850Glu 52,159,459 DIIS4 Disease causing Probably damaging Reported [14]
Patient 3 c. 5614C > T, p.Arg1872Trp 52,200,884 C-terminal Disease causing Probably damaging Reported [9, 14]
Pateint 4 c. 423G > A, p.Gly1475Arg 52,184,185 DIIIS6-DIVS1 loop Disease causing Probably damaging Reported [15]
Patient 5 c.5630A > G, p.Asn1877Ser 52,200,900 C-terminal Disease causing Possibly damaging Reported [15, 16]
Patient 6 p.2671G > A, p.Val891Met 52,159,581 DIIS5 Disease causing Probably damaging Novel
Pedigree c.4793 T > C, p.Val1598Ala 52,188,423 DIVS3 Disease causing Probably damaging Novel
  1. The positions of the mutations on chromosome 12 refer to the reference sequence that was retrieved from the NCBI database (build 37)