Case reportComplete heart block in nonfamilial hyperekplexia☆
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Cited by (19)
Neonatal Seizures
2018, Volpe's Neurology of the NewbornEctodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia
2011, Pediatric NeurologyCitation Excerpt :A recent study has proposed a new pathogenic mechanism of hyperekplexia involving a missense mutation resulting in spontaneous glycine receptor channel opening in the absence of an agonist [3]. Spontaneous channel activity is a pathogenesis in other disorders, including congenital myopathy and cardiac arrhythmias [3], both which have been associated with hyperekplexia (Table 1) [7,8]. We think that this patient manifested a unique clinical syndrome.
Sporadic major hyperekplexia in neonates and infants: Clinical manifestations and outcome
2004, Pediatric NeurologyThe effects of clonazepam and vigabatrin in hyperekplexia
1997, Journal of the Neurological SciencesNeonatal Seizures
2017, Volpe's Neurology of the Newborn
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Presented in part at the Child Neurology Society Annual Meeting, Orlando, FL, October, 1993.
Copyright © 1995 Published by Elsevier Inc.