Neurological Phenomenology of the IRF2BPL Mutation Syndrome: Analysis of a New Case and Systematic Review of the Literature

IRF2BPL is an intronless gene (also known as EAP1 or c14orf4) that was mapped in the 2000 on chromosome 14q24.3 [1]. This gene codes for the 796 amino acids-long interferon regulatory factor 2 binding-like protein, which is expressed in multiple human tissues, including the brain. Albeit its functions are largely unknown, several preclinical and clinical studies have suggested a possible role in neuronal development and homeostasis [2], transcription of the gonadotropin-releasing hormone [3], modulation of the ubiquitin-proteasome pathway (UPS) [4] ...

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Audit of epilepsy healthcare provision in a large UK category B prison

There are NICE guidelines and quality standards outlining principles of effective care provision for patients with epilepsy in England1. Nearly fourteen years ago, in 2008, Tittensor and colleagues2 highlighted that for people with epilepsy within the prison system the standards applicable at that time were not met (the standards have been revised since.) The UK prison population is currently around 80,000 and has risen by 74 percent in the last 30 years3 There are important demographic challenges in this population ...

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Short-term and long-term efficacy and safety of antiseizure medications in Lennox Gastaut syndrome: a network meta-analysis

Lennox Gastaut syndrome (LGS) is an age-dependent epileptic encephalopathy characterized by drug-resistant polymorphic seizures with an onset in early childhood, distinctive electroencephalographic findings (generalized slow spike-wave discharges), and cognitive impairment [1,2]. The multiple seizure types associated with LGS include drop seizures (tonic, atonic, or tonic atonic), atypical absences, and other convulsive seizures (clonic, tonic-clonic, etc.). Drop seizures are often very frequent (occurring multiple times/day) and disabling, with a risk of sustaining injuries acutely and poor long-term outcomes in general (many ...

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A descriptive study of eye and head movements in versive seizures

Versive seizures, consisting of forced, involuntary, sustained and unnatural turning of eyes and head toward one side, lateralize to the hemisphere contralateral to the direction of the eye and head turn. The characteristics of eye and head movements in version have been rarely and incompletely studied in spontaneous epileptic seizures as opposed to direct cortical stimulation studies.

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Cleft size and type are associate with development of epilepsy and poor seizure control in patients with schizencephaly

Schizencephaly is a rare congenital anomaly with polymicrogyric gray matter-lined clefts [1–3]. Along with polymicrogyria, schizencephaly belongs to a group of malformations of cortical development occurring at the stage of neuronal organization [2, 4]. Patients with malformations of cortical development have a high prevalence of epilepsy, and many cases are medically refractory [5–7]. Although data from precise epidemiological studies are lacking, epilepsy has been reported in 37–74% of patients with schizencephaly [1, 8-10].

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Pilomotor seizures in autoimmune limbic encephalitis: description of two GAD65 antibodies – related cases and literature review.

Ictal piloerection (IP) is a rare manifestation of focal seizures subjectively associated with the sensation of goosebumps or shivers, and it may be distributed on one or both sides of the body. Pilomotor seizures mainly originate from the mesial temporal lobe. Although the precise neural network of IP has not yet been determined, the generator is suspected to lie in the insula or amygdala [1]. Previous analysis of the “localising value” of IP has not given conclusive results. Clearly unilateral ...

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