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