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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)