[SP6-3D-2] A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
[Background] Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterized by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst electroencephalogram 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.
[Methods] Sequencing was performed for 214 patients with epileptic seizures using by a gene panel with 109 genes that are known or suspected to cause epileptic seizures.
[Results] We discovered a de novo heterozygous missense mutation (c.859A>C [p.Thr287Pro]) in the GABRB2-encoded β2 subunit of the GABAA receptor in an infant with EME. No GABRB2 mutations were found in three other EME cases or in 166 patients with infantile spasms.
[Conclusions] We discovered a first mutation in the gene which is coding channel. This study elucidated the association of channel for EME.
[Methods] Sequencing was performed for 214 patients with epileptic seizures using by a gene panel with 109 genes that are known or suspected to cause epileptic seizures.
[Results] We discovered a de novo heterozygous missense mutation (c.859A>C [p.Thr287Pro]) in the GABRB2-encoded β2 subunit of the GABAA receptor in an infant with EME. No GABRB2 mutations were found in three other EME cases or in 166 patients with infantile spasms.
[Conclusions] We discovered a first mutation in the gene which is coding channel. This study elucidated the association of channel for EME.