/developmental and epileptic encephalopathy, 12

developmental and epileptic encephalopathy, 12

Rare Disease

MONDO:0013389

Also Known As

DEE12EIEE12PLCB1 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 12developmental and epileptic encephalopathy, 12early infantile epileptic encephalopathy 12early infantile epileptic encephalopathy caused by mutation in PLCB1epileptic encephalopathy, early infantile, 12epileptic encephalopathy, early infantile, type 12

Definition

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.