A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay.

The RUBCN gene encodes a widely expressed protein called Rubicon, the main function of which is to negatively regulate macroautophagy. A single homozygous pathogenic variant of the RUBCN gene has been reported to date in two unrelated consanguineous Saudi families with spinocerebellar ataxia autosomal recessive 15 (OMIM#613516). This variant is responsible for the deletion of the highly conserved Rubicon Homology (RH) domain, which is important for the colocalization of Rubicon with Rab7 in the late endosome.

Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.

Aims: The prognosis of Infantile epileptic spasm syndrome (IESS), relates to the underlying etiology and delay in controlling epileptic spasms. Based on the spasm-free rate, a randomized controlled trial has demonstrated the superiority of combining oral steroids and vigabatrin over oral steroids alone but confirmation in real-life conditions is mandatory.

Methods: We compared two real-life IESS cohorts: a multicenter, retrospective cohort of 40 infants treated with vigabatrin followed by a sequential (ST) addition of steroids, and a prospective, single-center cohort of 58 infants treated with an immediate combination of vigabatrin and steroids (CT).

PACS2 pathogenic variant associated with malformation of cortical development and epilepsy.

PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. However, no malformation of cortical development has been reported yet. We report here a seven-year-old child with a history of infantile epileptic spasm syndrome and a right insular polymicrogyria and pachygyria due to de novo PACS2 recurrent mutation c.

Uncommon use of intermittent glucose administration for infrequent non-epileptic paroxysmal events in GLUT1-DS.

The ketogenic diet is the treatment of GLUT1 deficiency syndrome that provides an alternative energy source for the brain. However, there are some limitations, including compliance issues as well as patients who do not respond to the ketogenic diet. We report the case of two patients that were not on any particular diet.

Expectations of patient associations from a French Center for Rare Epilepsies.

Rare epilepsy centers, also called reference centers in France, have the mission to coordinate care for rare diseases, improve knowledge, and conduct research on rare diseases. Dissemination of knowledge is conducted in collaboration with patient associations. In just a few years, the Internet and social media have become the main source for news and knowledge.

Investigations in children with seizures visiting a pediatric emergency department: A monocenter study.

Aim: Neurological disorders, in particular seizure, are one of the reasons for admission in pediatric emergency departments (PED). We aimed to evaluate the frequency and the relevance of each investigation for seizure management in the PED.

Methods: We conducted a one-year retrospective study.

Neuropathology findings in KCNQ2 neonatal epileptic encephalopathy.

Purpose: KCNQ2-epileptic encephalopathy (EE) is a neonatal epilepsy syndrome characterized by a typical clinical presentation and EEG recording, but without any brain or cortical abnormal development on MRI. Most of the patients have a severe developmental impairment. The epileptogenic mechanisms are thought to be the result of the changes of the M-current density causing a change of brain excitability.

Considering safety and patient tolerance in the use of ketogenic diet in the management of refractory and super-refractory status epilepticus: a systematic review.

Introduction: Early use of the ketogenic diet (KD) is described as having a particular interest for super-refractory status epilepticus and febrile infection-related epilepsy syndrome. The authors conducted a systematic review of the available data on the KD for refractory and super-refractory status epilepticus.

Areas Covered: Following a systematic bibliographic search, the authors found 15 published papers: 2 prospective and 13 retrospective studies.

Focal epilepsy due to de novo SCN1A mutation.

Objective: Our aim was to identify patients with SCN1A-related epilepsy with a phenotype of pure focal epilepsy.

Methods: We conducted a retrospective study and a systematic review in Pubmed to identify patients with focal epilepsy associated with SCN1A pathogenic variants.

Results: We found three patients among 1,191 in our rare epilepsy database in 2017.

Consensus statements on the information to deliver after a febrile seizure.

Febrile seizures (FS) are usually self-limiting and cause no morbidity. Nevertheless they represent very traumatic events for families. There is a need to identify key messages that reassure carers and help to prevent inappropriate, anxiety-driven behaviors associated with "fever phobia.

Neurological disorders encountered in a pediatric emergency department.

Aim: Neurological disorders are one of the reasons for admission in pediatric emergency departments (PEDs). We aimed to evaluate the frequency of neurological disorders seen in a large tertiary PED.

Methods: We conducted a one-year retrospective study that included 1471 medical records.

Usefulness, limitations, and parental opinion about teleconsultation for rare pediatric epilepsies.

Aim: Evaluation of the usefulness and the parental opinion about teleconsultation (TC) for rare pediatric epilepsies.

Method: One-month prospective survey of consecutive TCs. All clinics on site have been turned into TC in the context of COVID-19 pandemic.

Real-life use of videos in pediatric epilepsy consultations.

Paroxysmal events are usually not directly observed by physicians. The diagnosis remains challenging and relies mostly on the description of witnesses. The effectiveness of videos for seizure diagnosis has been validated by several studies, but their place in clinical practice is not yet clear.

[Pediatric epilepsies].

Pediatric epilepsies. Epilepsies are a heterogeneous group of diseases characterized by the recurrence of epileptic seizures. The incidence is higher in children than in adults.

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.

Cause of complex dyskinesia remains elusive in some patients. A homozygous missense variant leading to drastic decrease of PDE2A enzymatic activity was reported in one patient with childhood-onset choreodystonia preceded by paroxysmal dyskinesia and associated with cognitive impairment and interictal EEG abnormalities. Here, we report three new cases with biallelic PDE2A variants identified by trio whole-exome sequencing.

Views of adolescents and their parents on mobile apps for epilepsy self-management.

Introduction: New technologies are ubiquitous in our everyday lives, and this is especially true for teenagers. Very few mobile apps have been designed for adolescents with epilepsy. In order to better understand their expectations as well as those of their parents, we conducted a survey on this topic.

Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome.

Objective: Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established treatment after the failure to standard of care based on steroids and vigabatrin. Converging lines of evidence indicating a role of NR2B subunits of the N-methyl-D-aspartate (NMDA) receptor on the onset of spams in ISS patients, prompted us to test radiprodil, a negative allosteric NR2B modulator in preclinical seizure models and in infants with ISS.

Methods: Radiprodil has been tested in three models, including pentylenetetrazole-induced seizures in rats across different postnatal (PN) ages.

Felbamate for infantile spasms syndrome resistant to first-line treatments.

Aim: To analyse the effects of felbamate in refractory infantile spasms/West syndrome.

Method: We conducted a 10-year retrospective study of infants (including all infants younger than 18mo) treated with felbamate for electroencephalography-recorded epileptic spasms persisting after first-line treatment.

Results: In total, 29 infants (17 males, 12 females) were included in the study.

History of dietary treatment from Wilder's hypothesis to the first open studies in the 1920s.

In the ketogenic diet (KD) history, Wilder is often mentioned as the first author to report on the use of KD for patients with epilepsy. Our article aimed to understand how Wilder formulated the hypothesis of the KD effectiveness for patients with epilepsy, and how the KD was used and spread in the 1920s. In 1921, Wilder published two articles on the effects of ketonemia on epilepsy.

An Evidence-Based Review On The Use Of Perampanel For The Treatment Of Focal-Onset Seizures In Pediatric Patients.

Perampanel, a non-competitive AMPA receptor antagonist, is a once-daily oral antiepileptic drug approved for the treatment of focal seizures and primary generalized tonic-clonic seizures in children 12 years of age and over. We conducted a systematic review of the data on perampanel in children and adolescents with focal-onset seizures. We found 21 published papers on the pediatric use of perampanel for focal-onset seizures, including 9 papers on clinical trials and ancillary studies of these trials, of which 2 focused on pharmacokinetics, 1 was a meta-analysis, and 9 were real-life studies (1 was prospective).

Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.

Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive disorders. Through this series of 20 patients with NCL, we illustrate differences between subtypes in their presenting symptoms and clinical, imaging, and electrophysiological results to raise awareness of symptom diversity. Data were available on presenting symptoms, genetics, magnetic resonance imaging (MRI), electroencephalography (including with low-frequency intermittent photic stimulation), visual responses, and electron microscopy.

Absence of increased blood decanoic acid levels in children with epilepsy treated with classic ketogenic diet.

Recently, decanoic acid (C10), a medium-chain fatty acid, was shown to be a direct inhibitor of the AMPA receptor. Accordingly, C10 has been suggested as a potential anticonvulsant factor in the ketogenic diet (KD) or the medium-chain triglyceride KD. Here, we tested whether C10 serum levels correlate with the response to KD in five children (1.

Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.

Unlabelled: In some patients with GLUT1 deficiency syndrome (GLUT1-DS), the diagnosis can be difficult to reach. We report a child with 2 inherited mutations suggesting an autosomal recessive transmission of SLC2A1 mutations.

Methods: The child and her parents were explored with erythrocyte 3-O-methyl-d-Glucose uptake, glucose uptake in oocytes expressing GLUT1 with the gene mutations and measure of the expression of GLUT1 at the surface of the circulating red blood cells by flow cytometry (METAglut1™ test).