Epilepsy with auditory features (EAF) is a focal epilepsy belonging to the focal epileptic syndromes with onset at variable age according to the new ILAE Classification. It is characterized by seizures with auditory aura or receptive aphasia suggesting a lateral temporal lobe involvement of the epileptic discharge. Etiological factors underlying EAF are largely unknown. In the familial cases with an autosomal dominant pattern of inheritance several genes have been involved, among which the first discovered, LGI1, was thought to be predominant. However, increasing evidence now points to a multifactorial etiology, as familial and sporadic EAF share a virtually identical electro-clinical characterization and only a few have a documented genetic etiology. Patients with EAF usually have an unremarkable neurological examination and a good response to antiseizure medications. However, it must be underscored that total remission might be lower than expected and that treatment withdrawal might lead to relapses. Thus, a proper understanding of this condition is in order for better patient treatment and counseling. Further studies are still required to further characterize the many facets of EAF.

Introduction Recurrent Painful Ophthalmoplegic Neuropathy, previously known as Ophthalmoplegic Migraine, is a poorly characterized disorder mainly because there are few cases described. We report a new case of Recurrent Painful Ophthalmoplegic Neuropathy and a review of the literature to contribute to increasing the knowledge of the clinical features of this disorder. Case report and review of literature A 45-year-old woman presented with adult-onset recurrent attacks of abducens and oculomotor palsy associated with diplopia followed by headache. Most notably, pain always presented many days after oculomotor impairment, a feature never described in the literature. A diagnosis of possible Recurrent Painful Ophthalmoplegic Neuropathy was made after excluding other possible mimicking disorders. Symptoms usually resolved gradually with corticosteroid therapy, albeit without a clear-cut benefit. Clinical data collected from 1989 to 2022 showed that adult onset in Recurrent Painful Ophthalmoplegic Neuropathy is not uncommon. While III cranial nerve palsy is typical, VI and IV nerve palsy have also been described. Pathophysiology and diagnosis Several hypotheses have been proposed, including nerve compression, ischemia or inflammation/demyelination, but none has been completely accepted. Diagnosis remains of exclusion; magnetic resonance imaging and blood exams are key in differential diagnosis. Conclusions Our case gives us the possibility to expand the clinical features of Recurrent Painful Ophthalmoplegic Neuropathy, also contributing to updating the pathophysiological hypotheses.

Cryohydrocytosis is a form of stomatocytosis characterized by the leakage of sodium and potassium from red blood cells at low temperatures, characterized by pseudohyperkalemia. Stomatin‐deficient cryohydrocytosis is an extremely rare variant that only recently has been related to pathogenic variants in the SLC2A1 gene, encoding the main glucose transporter of the blood–brain barrier and red blood cells, GLUT1. It follows that GLUT1 deficiency syndrome, a rare but significant cause of metabolic epilepsy, may present with stomatin‐deficient cryohydrocytosis, although this correlation has only been reported in a few instances. We present the case of a patient carrying a novel de novo SLC2A1 pathogenic variant presenting with GLUT1 deficiency syndrome, pseudohyperkalemia, and splenomegaly consistent with cryohydrocytosis. We also review the previously reported cases of stomatin‐deficient cryohydrocytosis in the literature. As highlighted by our case, elevated potassium levels are a cause of concern, and GLUT1 deficiency syndrome patients are thus at risk of being subjected to unnecessary examinations; pseudohyperkalemia may be underrecognized in clinical practice.

Backgroundbiallelic mutation/expansion of the gene RFC1 has been described in association with a spectrum of manifestation ranging from isolate sensory neuro(no)pathy to a complex presentation as Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS). Our aim was to define the frequency and characteristics of small fiber neuropathy (SFN) in RFC1‐disease at different stages.MethodsRFC1‐cases were screened for SFN using the Neuropathic Pain Symptom Inventory (NPSI) and Composite Autonomic Symptom Score‐31 (COMPASS‐31) questionnaires. Clinical data were retrospectively collected. If available, lower limb skin biopsy samples were evaluated for somatic epidermal and autonomic subepidermal structures innervation and compared to healthy controls (HC).Resultswe enrolled 40 patients, median age at onset 54 years (IQR 49‐61) and disease duration 10 years (IQR 6‐16). Mild‐to‐moderate positive symptoms (median NPSI score 12.1/50, IQR 5.5‐22.3) and relevant autonomic disturbances (median COMPASS‐31 score 37.0/100, IQR 17.7‐44.3) were frequently reported and showed scarce correlation with disease duration. A non‐length‐dependent impairment in nociception was evident on both clinical and paraclinical investigations. An extreme somatic denervation was observed in all patients at both proximal (fibers/mm RFC1‐cases 0.0 vs HC 20.5, p < .0001) and distal sites (fibers/mm RFC1‐cases 0.0 vs HC 13.1, p < .0001), instead only a slight decrease was observed in cholinergic and adrenergic innervation of autonomic structures.ConclusionsRFC1‐disease is characterized by a severe and widespread somatic SFN. Skin denervation may potentially represent the earliest feature and drive towards the suspicion of this disorder.