Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?
I Ohmori, Y Ohtsuka, M Ouchida, T Ogino… - Brain and …, 2003 - Elsevier
We classified 28 patients with severe myoclonic epilepsy in infancy (SME) according to the
presence or absence of myoclonic seizures and/or atypical absences. Eleven of the patients
had myoclonic seizures and/or atypical absences, and we refer to this condition as 'typical
SME (TSME)'. Seventeen of the patients had only segmental myoclonias, and we refer to this
condition as 'borderline SME (BSME)'. We then analyzed the electroclinical and genetic
characteristics of these two groups. Ten of the 11 TSME patients had a photoparoxysmal …
presence or absence of myoclonic seizures and/or atypical absences. Eleven of the patients
had myoclonic seizures and/or atypical absences, and we refer to this condition as 'typical
SME (TSME)'. Seventeen of the patients had only segmental myoclonias, and we refer to this
condition as 'borderline SME (BSME)'. We then analyzed the electroclinical and genetic
characteristics of these two groups. Ten of the 11 TSME patients had a photoparoxysmal …