developmental and epileptic encephalopathy, 12
An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.
MONDO:0017385
malignant migrating partial seizures of infancy
is_a
MONDO:0018097
infantile spasms
is_a
MONDO:0100455
neonatal-onset developmental and epileptic encephalopathy
is_a
DEE12
exact
EIEE12
exact
PLCB1 early infantile epileptic encephalopathy
exact
developmental and epileptic encephalopathy 12
exact
developmental and epileptic encephalopathy, 12
exact
early infantile epileptic encephalopathy 12
exact
early infantile epileptic encephalopathy caused by mutation in PLCB1
exact
epileptic encephalopathy, early infantile, 12
exact
epileptic encephalopathy, early infantile, type 12
exact
SPAC22F8.11