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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: BACKGROUND, METHODS, RESULTS. Meshes: Brain, Crystallography, X-Ray, Electroencephalography, HEK293 Cells, Humans, Infant, Male, Models, Molecular, Mutation, Missense, Opsoclonus-Myoclonus Syndrome, Receptors, GABA-A, Seizures, Spasms, Infantile.
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Does a de novo missense mutation of GABRB2 cause early myoclonic encephalopathy? Context: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with EMEs that have metabolic features. Here, we report a pathogenic mutation of an ion channel as a cause of EME for the first time. Sequencing was performed for 214 patients with epileptic seizures using a gene panel with 109 genes that are known or suspected to cause epileptic seizures. Functional assessments were demonstrated by using electrophysiological experiments and immunostaining for mutant γ-aminobutyric acid-A (GABA We discovered a de novo heterozygous missense mutation (c.859A>C [p.Thr287Pro]) in the GABRB2-encoded β2 subunit of the GABA
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This mutation has complex functional effects on GABA Final Decision: yes