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Gene: ARV1

Comment when marking as ready: Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur.

Created: 8 Aug 2024, 4:01 a.m. | Last Modified: 8 Aug 2024, 4:01 a.m.

Panel Version: 1.122

Green List (high evidence)

HGNC approved symbol/name: ARV1

Is the phenotype(s) severe and onset <18yo ? Y

Known technical challenges? N

Gene reported in >3 independent families

Created: 5 Aug 2024, 5:05 a.m. | Last Modified: 5 Aug 2024, 5:05 a.m.

Panel Version: 1.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 38 MIM#617020 MONDO:0014868

Publications

• 35227294
• 27270415
• 25558065
• 34017911
• 34296759