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Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the imprinted and maternally expressed UBE3A gene. Although de novo genetic and epigenetic imprinting defects of UBE3A genomic locus account for majority of Angelman diagnoses, approximately 10% of individuals affected with Angelman syndrome are a result of UBE3A loss-of-function mutations occurring on the expressed maternal chromosome. The variants described in this manuscript represent the analysis of 2,515 patients referred for UBE3A gene sequencing at our institution, along with a comprehensive review of the UBE3A mutation literature. Of these, 267 (10.62%) patients had a report issued for detection of a UBE3A gene nucleotide variant, which in many cases involved family studies resulting in reclassification of variants of unknown clinical significance (VUS). Overall, 111 (4.41%) probands had a nucleotide change classified as pathogenic or strongly favored to be pathogenic, 29 (1.15%) had a VUS, and 126 (5.0%) had a nucleotide change classified as benign or strongly favored to be benign. All variants and their clinical interpretations are submitted to NCBI ClinVar, a freely accessible human variation and phenotype database.

Many neuromuscular conditions occur more frequently during pregnancy and include carpal tunnel syndrome, Bell's palsy, lumbosacral radiculopathy, meralgia paresthetica, intercostal neuralgia, and other compression neuropathies. Preexisting or coincident neuromuscular diseases, including demyelinating polyneuropathies, inflammatory muscle disease, myasthenia gravis, and inherited nerve and muscle disease present specific problems during pregnancy. We review management of neuromuscular disorders during pregnancy, labor, delivery, and the early postpartum period.

True neurogenic radial tunnel syndrome is an uncommon condition caused by entrapment of the radial or posterior interosseous nerve in the radial tunnel and is usually easily identifiable by focal motor weakness in the distribution of the posterior interosseous nerve. Roles and Maudsley, analogizing to carpal tunnel syndrome, believed "radial tunnel syndrome" had a different presentation: proximal forearm pain and tenderness in the region of the supinator muscle. However, their patients lacked weakness or other neurologic deficit. They and subsequent surgeons have decompressed the radial nerve to treat forearm pain and tenderness, even though it is debatable whether radial nerve entrapment causes the forearm discomfort. The term "radial tunnel syndrome" is best reserved for the truly neurogenic cases. Surgical approaches to "persistent tennis elbow" should be assessed in a controlled fashion, rather than adopted on the basis of a flawed analogy to carpal tunnel syndrome.

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