Amish infantile epilepsy syndrome

Common Name(s)

Amish infantile epilepsy syndrome

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by {5:Fragaki et al., 2013}). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by {1:Boccuto et al., 2014}). Not all patients have overt seizures ({6:Lee et al., 2016}).
 

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Scientific Literature

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