Journal of Pediatric Epilepsy    

An Unusual Case of Progressive Myoclonic Epilepsy (PME): Familial Encephalopathy with Neuroserpin Inclusion Body (FENIB)

Das et al. 

Progressive myoclonic epilepsy is a spectrum with epileptic encephalopathy and myoclonus. In this case report, the authors describe a young patient presenting with refractory multifocal myoclonus with multiple seizure types with dyscognitive features.

Al Qahtani et al.

We present a case of a male with myoclonus dystonia and without epilepsy found on whole-exome sequencing to have a c.1880G > A; p.S627N variant in the GRIN2A gene.

Neuropediatrics    

Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

Panicucci et al.

Panicucci et al report a 13-year-old boy with mild limb girdle muscle weakness, elbow and ankle contractures, with absence of emerin at muscle biopsy, carrying a hemizygous frameshift mutation on the EMD gene (c.153dupC/p.Ser52Glufs*9) of maternal inheritance.

Headache Management in Individuals with Brain Tumor

Cuneo, Murinova

Headache occurs commonly in individuals diagnosed with cerebral neoplasm. Though the features of a brain tumor-associated headache may vary, a progressive nature of headache and a change in headache phenotype from a prior primary headache disorder often are identified.