developmental and epileptic encephalopathy, 55

Developmental and epileptic encephalopathy, 55 is a neurological condition that presents in the first weeks or months of life. It is characterized by early onset, refractory seizures and severe impairments in intellectual development, including absent speech, as well as profound motor challenges such as spastic quadriplegia and dyskinetic movements. The disorder is caused by mutations in the PIGP gene, which plays a vital role in the glycosylphosphatidylinositol biosynthesis pathway. Prevalence data are not well established, and not all individuals experience all the clinical features with the same severity.

Affected individuals typically present with refractory seizures early in infancy. They experience profound intellectual impairment and exhibit significant motor difficulties including spastic quadriplegia and dyskinetic movements. Additionally, joint hypermobility is consistently noted. Cognitive challenges and impaired communication are prominent, underscoring the impact on neurological development. Not all individuals experience all features, and severity varies considerably.

This condition results from homozygous or compound heterozygous mutations in the PIGP gene. The PIGP gene is essential for the proper functioning of the glycosylphosphatidylinositol biosynthesis pathway, and its disruption leads to the neurological and motor impairments observed in affected individuals. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual has inherited a mutated copy of the gene from each parent. Genetic counseling is recommended to help families understand the implications for future pregnancies.

Currently, management focuses on supportive care and symptom control since there are no treatments specifically approved for this condition. A multidisciplinary team approach is vital, with interventions tailored to address seizures, motor difficulties, and developmental challenges. In addition to supportive therapies, genetic counseling is recommended to assist families with understanding the condition and planning for the future. Patients should discuss treatment options with their healthcare team to determine individualized care strategies.

This lifelong neurodevelopmental condition is characterized by early onset of severe seizures and significant challenges in cognitive and motor development. Outcomes vary widely among affected individuals, with some experiencing periods of relative stabilization after the initial presentation. With advancements in supportive care, many individuals benefit from improved management of symptoms, although long-term outcomes continue to evolve as standards of care improve. Families are encouraged to connect with genetic counseling, specialist services, and support groups to help navigate ongoing care and future planning.