Last Updated: 09/26/2026
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Found 9 publications
Augmented Reality in Airway Management: A Scoping Review.
Journal: Anesthesia and analgesia
Published: August 05, 2025
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Journal: Neurology
Published: April 28, 2022
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.
Journal: Developmental medicine and child neurology
Published: June 02, 2021
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
Journal: EMBO molecular medicine
Published: December 03, 2017
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
Journal: EMBO molecular medicine
Published: November 29, 2015
Epileptic spasms are a feature of DEPDC5 mTORopathy.
Journal: Neurology. Genetics
Published: May 22, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Journal: American journal of human genetics
Published: January 14, 2015
Showing 1-9 of 9
Last Updated: 09/26/2026