Mice with a genetic mutation that's been observed in patients with epileptic encephalopathy, a severe form of congenital epilepsy, exhibit not only the seizure, developmental and behavioral symptoms of the disorder, but also ...
Dec 17, 2021
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Two mutations identified in individuals with developmental and epileptic brain disease can be traced back to the same ion channel. Researchers have now elucidated how both independent mutations affect the channel's function: ...
Jun 18, 2020
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Seizure disorders in babies are frightening and heartbreaking. A new basic science breakthrough offers hope for a potential treatment for rare developmental and epileptic encephalopathies resulting from a single genetic mutation. ...
Feb 20, 2020
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Technological advances ranging from gene editing to next-generation sequencing offer unprecedented access to the human genome and promise to reshape the diagnosis and treatment of epilepsy.
Dec 6, 2015
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A team of researchers from the National Institutes of Health, Emory University and Cedars-Sinai – specialists in identifying and treating very rare diseases – used three innovative tools to detect a previously unknown ...
Mar 11, 2014
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A large-scale international study on the genes involved in epilepsy has uncovered 25 new mutations on nine key genes behind a devastating form of the disorder during childhood. Among those were two genes never before associated ...
Aug 11, 2013
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