developmental and epileptic encephalopathy 108

Developmental and epileptic encephalopathy 108 is a neurological disorder that primarily affects early cognitive development and is marked by severe seizure activity. It is caused by pathogenic variants in the MAST3 gene, a gene involved in key signaling pathways in the brain. The condition is inherited in an autosomal dominant manner, meaning that only one altered copy of the gene is sufficient for an affected individual to develop the disorder. Although precise prevalence data are not available, the condition is recognized for its significant impact on neurological function.

Individuals with developmental and epileptic encephalopathy 108 almost universally exhibit intellectual disability and epileptic encephalopathy. The seizure types reported include tonic, atonic, myoclonic, focal impaired awareness, generalized non-motor (absence) seizures, and less commonly, focal motor status epilepticus, bilateral tonic-clonic seizures with focal onset, and convulsive status epilepticus. Additional findings that may be observed in many affected individuals include a small pituitary gland and a thin corpus callosum, contributing to the complex neurological profile. Not all individuals experience all features, and severity varies considerably.

Developmental and epileptic encephalopathy 108 is caused by pathogenic variants in the MAST3 gene, which plays a critical role in neuronal signaling within the brain. It is inherited in an autosomal dominant pattern, meaning that a single altered copy of the gene can lead to the disorder. There is variable expressivity, so even within families, the nature and severity of symptoms can differ. Families are encouraged to pursue genetic counseling to better understand the implications of genetic testing and the potential risks for relatives.

Currently, management of developmental and epileptic encephalopathy 108 focuses on supportive care and symptom management, as there are no treatments specifically approved for this condition. Treatment plans are highly individualized and typically involve a multidisciplinary team that may include neurologists, developmental pediatricians, and other specialists. Interventions often aim to control seizures and support cognitive and developmental needs through therapies, behavioral interventions, and educational support. Genetic counseling is also recommended to help families navigate treatment decisions and understand the inheritance pattern.

The outlook for individuals with developmental and epileptic encephalopathy 108 varies widely, with outcomes largely dependent on the severity of cognitive and neurological challenges. With current standards of care, many individuals experience periods of stabilization and benefit from ongoing therapeutic interventions, though the condition remains lifelong. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists and support groups, and genetic counseling can provide further guidance, recognizing that severity and symptoms vary widely between individuals.