A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures
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DOI: 10.1111/cge.13049
Abstract: Epilepsy of infancy with migrating focal seizures (EIMFS) is an infantile epileptic encephalopathy characterized by refractory seizures, severe psychomotor delay, and multiple moving epileptic discharges. The genetic etiology of EIMFS is relatively homogeneous with the… read more here.
Keywords: infancy migrating; focal seizures; migrating focal; epilepsy infancy ... See more keywords