KCNQ2 encephalopathy: A case due to a de novo deletion
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DOI: 10.1016/j.braindev.2017.06.008
Abstract: KCNQ2 encephalopathy is characterized by severely abnormal EEG, neonatal-onset epilepsy and developmental delay. It is caused by mutations (typically missense) in the KCNQ2 gene, encoding the voltage gated potassium channel Kv7.2 and leading to a… read more here.
Keywords: case due; kcnq2 encephalopathy; novo deletion; deletion ... See more keywords