Article
Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy.
Practical neurology - 1 Jun 2017
Stern William M, Winston Joel S, Murphy Elaine, Cross J Helen, Sander Josemir W
Abstract excerpt
Epilepsy commonly presents in childhood as part of a syndrome, and some such children may reach adult services without an underlying syndromic diagnosis. For adult neurologists taking over their care, it is often unclear how hard to search for an underlying diagnosis. The diagnostic yield may be small and such a diagnosis may not change management. Young adults with learning difficulties are also challenging to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.