PRICKLE1-related early onset epileptic encephalopathy.

Area of Science:

• Genetics and Developmental Biology
• Neuroscience

Background:

• The PRICKLE1 gene encodes a key protein in planar cell polarity pathways, crucial for cell organization during human development.
• Mutations in PRICKLE1 are associated with a spectrum of neurological disorders, including epilepsy, neural tube defects, and autism spectrum disorder.

Observation:

• A novel variant in the PRICKLE1 gene (NM_153026.2:c.820G>A, resulting in p.Ala274Thr amino acid change) was identified.
• This variant was observed in a young male patient exhibiting severe early infantile epileptic encephalopathy.

Findings:

• The identified PRICKLE1 variant (p.Ala274Thr) represents a new genetic cause for early infantile epileptic encephalopathy.
• This case highlights the critical role of PRICKLE1 in early neurodevelopment and brain function.

Implications:

• Further research into PRICKLE1 variants can improve understanding and diagnosis of early-onset epileptic encephalopathies.
• This finding expands the genotypic spectrum of PRICKLE1-associated neurodevelopmental disorders.