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PubMed · 1396422

Neonatal hyperekplexia: a case report.

A Pascotto·G Coppola
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Abstract

We report the case of a baby with transient generalized stiffness noticeable from the first days of life, hyperreflexia, massive jerks in response to sudden tactile and acoustic stimuli, and long-lasting myoclonic jerks closely resembling epileptic seizures. The father and paternal grandfather both had hyperekplexia. At age 3 years, the child had normal psychomotor development and persistent abnormal startle response to unexpected sounds or touch.

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Cerebral CortexElectroencephalographyFamilyHumansInfantInfant, NewbornMaleMyoclonusNervous System DiseasesReflexReflex, StartleSleepSyndromeJournal Article

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A Pascotto, G Coppola. Neonatal hyperekplexia: a case report.. https://doi.org/10.1111/j.1528-1157.1992.tb02187.x

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Prenatal diagnosis of malformations of cortical development by dedicated neurosonography.

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