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A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy.

Saeed Farajzadeh ValilouJavad Karimzad HaghMohammad Salimi AslIsa Abdi RadMasoud EdizadehArash Pooladi
Published in: Clinical case reports (2021)
The report of LMNB2-related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.
Keyphrases
  • multiple sclerosis
  • intellectual disability
  • early onset
  • case report
  • autism spectrum disorder
  • temporal lobe epilepsy