Genetic Epilepsy

Gene: PLAA

Green List (high evidence)

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy.

At least 5 families reported. Mouse model.

Created: 1 Feb 2022, 1:23 a.m. | Last Modified: 1 Feb 2022, 1:23 a.m.

Panel Version: 0.1436

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527

Publications

• 28007986
• 28413018
• 31322726