current
CDKL5:c.863C>T (p.Thr288Ile) AND Early infantile epileptic encephalopathy 2
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In an Italian boy with EIEE2 (300672), Elia et al. (2008) identified a de novo hemizygous 863C-T transition in the CDKL5 gene, resulting in a thr288-to-ile (T288I) substitution predicted to affect the catalytic domain of the protein. The patient showed psychomotor regression starting at age 8 months, which coincided with onset of seizures. He had loss of speech, ataxia, and progression of refractory seizures.
18809835
CDKL5:c.863C>T (p.Thr288Ile)
NM_003159.2:c.863C>T
NG_008475.1:g.177895C>T
NC_000023.10:g.18616619C>T
NP_003150.1:p.Thr288Ile
missense
T288I
THR288ILE
Xp22.1
cyclin-dependent kinase-like 5
CDKL5
Early infantile epileptic encephalopathy 2
INFANTILE SPASM SYNDROME, X-LINKED 2
Epileptic encephalopathy, early infantile, 2
EIEE2
ISSX2
X-linked inheritance
X-linked dominant inheritance
Childhood
1-9 / 100 000
current
Pathogenic
germline
human
not provided
curation
In an Italian boy with EIEE2 (300672), Elia et al. (2008) identified a de novo hemizygous 863C-T transition in the CDKL5 gene, resulting in a thr288-to-ile (T288I) substitution predicted to affect the catalytic domain of the protein. The patient showed psychomotor regression starting at age 8 months, which coincided with onset of seizures. He had loss of speech, ataxia, and progression of refractory seizures.
18809835
CDKL5, THR288ILE
THR288ILE
CDKL5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2