Features include always present findings: Sideways curvature of the spine (scoliosis) and Gait ataxia; and common findings: Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizure, and Microglossia and others.

LMNB2 encodes lamin B2 (620 aa). Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane. Highest expression in Cells EBV-transformed lymphocytes (104.6 TPM) and Cells Cultured fibroblasts (96.1 TPM).

Progressive myoclonic epilepsy type 9 is associated with mutations in the LMNB2 gene on chromosome 19.

LMNB2 is classified as a druggable target with score 10.4.

Genetic testing for LMNB2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 14 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for progressive myoclonic epilepsy type 9.

21 publications have been identified in PubMed for progressive myoclonic epilepsy type 9. Kisho has analyzed 14 by research type. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (21%).