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Abstract

A method for the diagnosis of SMEI in a patient comprising:

(1) detecting an alteration in the SCN1A gene, including in a regulatory region of the gene, in a patient sample;(2) ascertaining whether the alteration is known to be SMEI associated or non-SMEI associated; and(3) (a) establishing a diagnosis of a high probability of SMEI where the alteration is known to be SMEI associated; or (b) establishing a diagnosis of a low probability of SMEI where the alteration is non-SMEI associated; or(e) or, if not known to be either, (i) considering genetic data for parents and/or relatives;(ii) establishing whether the alteration has arisen de novo or is inherited; and(iii) establishing a diagnosis of a low probability of SMEI where the alteration is inherited but a diagnosis of a high probability of SMEI if the alteration is de novo.

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First Claim