Epilepsy

Jennifer Williams, Gerard Mullins, Norman Delanty, Bede Peter, Colin P. Doherty September 3, 2017

Kramer et al first described transient MRI abnormalities in a patient with focal status epilepticus in 1987 [1]. Since then, increased use and availability of MRI has revealed a wide spectrum of neuroimaging abnormalities in the acuteictal period. The appearance of these abnormalities can sometimes pose diagnostic dilemmas for clinicians who may encounter them in a variety of clinical scenarios and are unsure about their significance.… Read More...

Zhidong Cen, Yuting Lou, Yufan Guo, Jianda Wang, Jianhua Feng September 3, 2017

SCN9A gene encodes voltage-gated sodium channel NaV1.7 and is associated with a group of heterogeneous phenotypes. Heterozygous gain-of-function SCN9A mutations have been linked to inherited erythromelalgia (IEM), paroxysmal extreme pain disorder (PEPD), and small-fiber neuropathy (SFN), while recessive loss-of-function SCN9A mutations have been linked to congenital insensitivity to pain (CIP).… Read More...

Sujata Roshan, Vinod Puri, Neera Chaudhry, Anu Gupta, Sumit Kumar Rabi September 3, 2017

Sleep disorders are common in patients with epilepsy. In addition to excessive daytime sleepiness (EDS), many primary sleep disorders such as obstructive sleep apnea (OSA), and sleep-maintenance insomnia are 2 to 3 times more prevalent in people with epilepsy than the general populations [1].… Read More...

Josef Finsterer, Sinda Zarrouk-Mahjoub September 3, 2017

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder (MID) with a broad phenotypic but narrow genotypic heterogeneity. One of the predominant phenotypic features in addition to myopathy is epilepsy. The most frequent seizure type in MERRF is generalised myoclonic seizure but also focal myoclonic, focal atonic, generalised tonic-clonic, generalised atonic, generalised myoclonic-atonic, typical absences, or tonic-clonic seizures of unknown onset have been reported.… Read More...

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