EPISODIC ATAXIA TYPE 1, KCNA1 GENE MUTATION

Episodic ataxia (EA) is an autosomal dominant neurologic condition affecting less than 1 in 100,000 people. It is characterized by spells of incoordination and imbalance (ataxia) with or without myokymia. It is a genetically heterogeneous disorder caused by mutation in different genes.Type 1 episodic ataxia (EA1) is characterized by attacks of generalized ataxia induced by emotion or stress, with myokymia both during and between attacks. This disorder is also known as episodic ataxia with myokymia (EAM), hereditary paroxysmal ataxia with neuromyotonia and Isaacs-Mertens syndrome. Onset of EA1 occurs during early childhood to adolescence and persists throughout the patient's life.

  • Test Type:
  • Pre-test Information:
    Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Report Delivery:
    Sample by Mon 11 am; Report Fri
  • Components:
    0