Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy

ConclusionsA novel homozygous missense variant [NM_020247.5: c.814G>T; (p.Gly272Cys)] was identified within theADCK3 gene, which is the first mutation in this gene in the Iranian population. Bioinformatics analysis showed this variant is damaging. Based on our patient, clinicians should consider genetic testing earlier to instant diagnosis and satisfactory treatment based on exact etiology to prevent further neurologic sequelae.
Source: Journal of Molecular Neuroscience - Category: Neuroscience Source Type: research