current
ARX:c.1058C>T (p.Pro353Leu) AND West syndrome
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
Scheffer et al. (2002) described 6 males in an Australian family with a severe form of EIEE1 (308350), which they termed X-linked myoclonic epilepsy with mental retardation, and spasticity. Scheffer et al. (2002) and Stromme et al. (2002) identified, in affected members of this family, a 1058C-T transition in the ARX gene, resulting in a pro353-to-leu (P353L) substitution.
11889467
12177367
ARX:c.1058C>T (p.Pro353Leu)
NM_139058.2:c.1058C>T
NG_008281.1:g.8012C>T
NC_000023.10:g.25031054G>A
NP_620689.1:p.Pro353Leu
missense
P353L
PRO353LEU
Xp21.3
aristaless related homeobox
ARX
West syndrome
INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY
INFANTILE SPASM SYNDROME, X-LINKED 1
WEST SYNDROME, X-LINKED
Spasms, Infantile
OHTAHARA SYNDROME, X-LINKED
Epileptic encephalopathy, early infantile, 1
EIEE1
XMESID
ISSX1
IS
X-linked inheritance
X-linked recessive inheritance
Neonatal/infancy
loss of function
current
pathogenic
germline
human
not provided
curation
Scheffer et al. (2002) described 6 males in an Australian family with a severe form of EIEE1 (308350), which they termed X-linked myoclonic epilepsy with mental retardation, and spasticity. Scheffer et al. (2002) and Stromme et al. (2002) identified, in affected members of this family, a 1058C-T transition in the ARX gene, resulting in a pro353-to-leu (P353L) substitution.
12177367
11889467
ARX, PRO353LEU
PRO353LEU
ARX
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1