Andrew Silverman MD, MHS , Ann Hyslop MD , William Gallentine DO , Chethan Rao DO, MS
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A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep
Background
Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is a rare neurodevelopmental spectrum of disorders marked by regression associated with spike-and-wave activation in sleep.
Methods
As roughly 10% have a related genetic underpinning, we sought to describe narrative clinical histories of four patients at a single academic medical center with monogenic variants associated with DEE-SWAS. In sharing this case series, we aim to build on recent work investigating genetic DEE-SWAS.
Results
Findings from this case series not only aid in accurate diagnosis and prognosis for our patients but also may provide potential targets for future therapeutic interventions.
Conclusions
This natural history case series also highlights the difficulty in differentiating genetic phenotype from the effects of DEE-SWAS.
期刊介绍：
Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system.
Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.
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