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A novel syndrome of lethal familial hyperekplexia associated with brain malformation

Mohammed Zein Seidahmed, Mustafa A Salih*, Omer B Abdulbasit, Meeralebbae Shaheed, Khalid Al Hussein, Abeer M Miqdad, Abdullah K Al Rasheed, Anas M Alazami, Ibrahim A Alorainy and Fowzan S Alkuraya

BMC Neurology 2012, 12:125  doi:10.1186/1471-2377-12-125