PACS2 related epileptic encephalopathy
Evidence-based neurology checklist on pacs2 related epileptic encephalopathy: Genetics This is caused by mutations of the PACS2 gene on chromosome 14q This encodes a multifunctional sorting protein The protein is highly expressed in the cervical spinal cord and cerebellum Clinical features Facial…
Genetics
- This is caused by mutations of the PACS2 gene on chromosome 14q
- This encodes a multifunctional sorting protein
- The protein is highly expressed in the cervical spinal cord and cerebellum
Clinical features
Facial dysmorphism
Magnetic resonance imaging (MRI) brain
Treatment
References
- Terrone G, Marchese F, Vari MS, et al. A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome. Seizure 2020; 79:53-55.
- Olson HE, Jean-Marçais N, Yang E, et al. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. Am J Hum Genet 2018; 102:995-1007.
- Dentici ML, Barresi S, Niceta M, et al. Expanding the clinical spectrum associated with PACS2 mutations. Clin Genet 2019; 95:525-531.
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