SLC33A1 mutation (Huppke-Brendel Syndrome) is a rare, autosomal recessive disorder associated with copper metabolism and characterized by global developmental delay, sensorineural hearing loss, congenital cataract and generalized hypotonia. We report two siblings under 6 years with novel SLC33A1 gene mutation, born fro...
The RESPONSE Study's premature termination reflected systemic barriers to pediatric device trials rather than isolated site failures, and anticipated insurance-based access disparities did not materialize locally.
M. C. Hasner, F. Robertson, Nathaniel D. Sisterson et al.· Epileptic disorders· 0 citations
This study expands the limited literature on insular neuromodulation by demonstrating effectiveness of RNS and CSS, suggesting potential benefit from combined thalamocortical targeting, and defining parasagittal trajectories as a surgical approach for optimal lead proximity.
Raunak Singh, N. Gregg, K. Starnes et al.· Epilepsia· 0 citations
Combined four-lead ANT/PUL DBS appears safe and effective for patients with drug-resistant posterior quadrant and temporal lobe epilepsies and dual-network neuromodulation may provide greater flexibility to individually optimize neuromodulation for complex seizure networks.
