Here we describe a novel Turkish patient with a hot-spot mutation (R126C) in the SLC2A1 gene who presented with unusual myoclonic absence epilepsy and paroxysmal shivering. [ncbi.nlm.nih.gov]

The patient was restless, distractible, and impulsive, but cooperative and able to follow simple instructions. [doi.org]

He had lower limb spasticity and hyperreflexia, mild dysarthria, truncal ataxia, intention tremor, poor coordination, and difficulty carrying out complex motor tasks. [doi.org]

He had lower limb spasticity and hyperreflexia, mild dysarthria, truncal ataxia, intention tremor, poor coordination, and difficulty carrying out complex motor tasks. [doi.org]

Examination at age 10 years revealed a head circumference at the 25th percentile, lower limb spasticity, and cerebellar dysfunction with dysarthria, limb dysmetria, and a mixed spastic-ataxic gait. [doi.org]

The episodes we observed can also be distinguished from other eye movement disorders that may occur in infancy, including infantile nystagmus, ocular flutter, and spasmus nutans. [doi.org]

Other associated findings included progressive spastic paraparesis with onset in early adulthood, mild gait ataxia, mild-to-moderate cognitive impairment, and epileptic seizures. [ncbi.nlm.nih.gov]

The electroencephalogram (EEG) may demonstrate multifocal spike discharges in infancy. [ncbi.nlm.nih.gov]