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Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in MECP2 gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and MECP2 variant subtypes., Methods: Conducted as a cross-sectional retrospective observational study, the research encompassed 55 patients meeting clinical RTT criteria and holding MECP2 mutations. A review of clinical records was performed to gather demographic data, mutation subtypes, orthopedic conditions, management strategies, and assessments of function., Results: Mean age of the participants was 10.22 ± 4.64 years (range, 2.9-19.41). Prevalence rates of orthopedic conditions were as follows: kyphoscoliosis 63.6%, hip displacement 14.6%, knee problems 40%, and foot deformities 75.5%. Significant relationship emerged between spinal (p < 0.01) and knee deformities (p < 0.01) with reduced motor function across various domains. Hip displacement significantly affected sitting ability (p = 0.002), and foot deformities impacted standing and walking capabilities (p = 0.049). Mutation clusters analysis revealed significant correlations with spinal (p = 0.022) and knee deformities (p = 0.002). Linear models highlighted the critical importance of mutation clusters, spine deformities, age, and hip management concerning functional variables., Conclusions: In this study, foot deformities were the most frequent orthopedic manifestation, followed by spinal, knee, and hip deformities; and unveiled their relationships with functional status and groups of mutations in RTT patients., Level of Evidence: Level IV, Case series., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Introduction: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship., Objective: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy., Methods: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire., Results: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients' parents reported that their child "slept well," although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics., Conclusions: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy., (Copyright © 2024 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)

Objective: Epilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study was to describe the clinical features, cognitive profile, and prognostic factors in a series of children with EEM., Methods: This is a retrospective observational study of patients diagnosed with EEM from 2012 to 2022 in a tertiary pediatric hospital., Results: Seventeen patients were analyzed (mean age at symptom onset 5.8 years). Neuropsychiatric comorbidities were present in 76.4% (attention deficit hyperactivity disorder 58.8%, behavioral disorder 11.8%, autism spectrum disorder 11.8%, and psychotic outbreaks 11.8%). Neurocognitive assessment was performed in 75%, revealing cognitive impairment in 66.6% (62.5% with borderline intellectual function and 37.5% with -IQ <70-), with predominant difficulties in executive functions, comprehensive language, and motor skills. Cognitive deterioration was observed in one patient in parallel onset with psychotic symptoms. High refractoriness to antiseizure medication (ASM) was observed, with only 23.5% of the patients being seizure-free after a mean follow-up of 7 years. The most effective ASM was valproic acid, and two of them received ketogenic diet with good response. Regarding prognostic factors, psychotic symptoms were associated with a greater number of antiseizure medication (p < .05) implying a more drug-resistant epilepsy., Significance: In our study, we found a high rate of cognitive and psychiatric comorbidities and high refractoriness. These data support the concept of EEM as an intermediate entity between idiopathic generalized epilepsy and epileptic and/or neurodevelopmental encephalopathy. Making a proper diagnosis and management of these comorbidities is necessary to improve prognosis and quality of life in EEM., (© 2023 International League Against Epilepsy.)

Aim: To evaluate the effectiveness and tolerability of cannabidiol (CBD) in patients with developmental and epileptic encephalopathies, including Dravet syndrome (DS), and Lennox-Gastaut syndrome (LGS), in a Spanish Expanded Access Program (EAP)., Methods: This was a multicenter, retrospective, observational study of patients treated with purified CBD in 14 hospitals across Spain. Patients with (1) written informed consent and (2) at least 6 months follow-up before the closure of the database were included. Primary effectiveness endpoints included reductions (100 %, ≥75 %, ≥50 %, ≥25 %, or 0 %) or worsening in seizure frequency (all seizure types and most disabling seizures) at 1-, 3-, 6-, and 12-month visits and at the last visit, and median relative seizure reduction between baseline and last visit. Secondary effectiveness endpoints included retention rate, reduction in seizure severity, status epilepticus, healthcare utilization, and quality of life. Primary safety endpoints included rates of adverse events (AEs) and AEs leading to discontinuation., Results: One hundred and two patients (DS 12 %; LGS 59 %; other epilepsy syndromes 29 %) with a mean age of 15.9 years were enrolled. Patients were highly refractory to antiseizure medications (ASMs); mean number of prior failed ASMs was 7.5 (SD 3.7). The mean CBD dose was 13.0 mg/kg/day at the last visit. The proportion of patients with ≥50 % reduction in the total number of seizures from baseline was 44.9 % at 6 months and 38.9 % at 12 months. The median number of total seizures per month reduced by 47.6 % from baseline to the last visit. At 12 months, seizure severity was lower in 33/54 patients (61.1 %) and unchanged in 17/54 patients (31.5 %). Quality of life, based on the CAVE scale, increased from a mean score of 17.9 ± 4.7 (n = 54) at baseline to 21.7 ± 5.5 (n = 51) at the last patient visit (21.2 % improvement). The mean treatment retention time was 10.3 months. There were no statistically significant changes in the number of status epilepticus episodes, but lower healthcare utilization was observed. Adverse events occurred in sixty-eight patients (66.7 %), and the most common were somnolence (34.3 %) and diarrhea (12.7 %). Cannabidiol was discontinued exclusively due to AEs in 7.8 % of patients, increasing to 25.5 % when both lack of efficacy and AEs were considered together., Conclusions: Cannabidiol demonstrated promising effectiveness and tolerability in patients with developmental and epileptic encephalopathies taking part in a Spanish EAP., Competing Interests: Declaration of Competing Interest V Villanueva has received honoraria and/or research funds from Angelini Pharma, Bial, Eisai, GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals), Neuraxpharm, Novartis, Nutricia, Takeda, UCB Pharma, and Zogenix. A García-Ron has received consultant and speaker honoraria from GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals). P Smeyers has received fees for conferences and other educational activities from Eisai, GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals), Humana, Neuraxpharm, and UCB. V Soto has received speaker honoraria from GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals). JJ Garcia-Peñas has received consultant and speaker honoraria from Bial, Eisai, GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals), Nutricia, Sanofi, UCB, and Zogenix. PJ. Serrano-Castro has received consultant and/or speaker honoraria from Angelini-Pharma, Bial, Eisai, GW Pharmaceuticals (now a part of Jazz Pharmaceuticals), Roche Pharmaceuticals, UCB Pharma, and Zogenix España. A Aledo-Serrano has received funding for research and educational activities from Angelini Pharma, Bial, Biocodex, Eisai, GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals), Neuraxpharm, PTC Therapeutics, Sanofi, UCB, and Zogenix. A Gil-Nagel has received grants from Jazz Pharmaceuticals, PTC Therapeutics and Zogenix, and received consultant and speaker honoraria from Bial, Biocodex, Eisai, Esteve, HealthInCode,GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals), PTC Therapeutics, Stoke, Synaptia,UCB Pharma,and Zogenix. A Gómez-Ibáñez has received consultant and speaker honoraria from GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals). M Falip has received consultant and speaker honoraria from GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals). F J Lopez-Gonzalez has received consultant and speaker honoraria from Angelini Pharma, Bial, Eisai, Esteve, GW Pharmaceutical Company (now a part of Jazz Pharmaceuticals), LivaNova, Nutricia, and UCB. E Arias, E González-Alguacil, D Sayas, M Garcés, K Hampel, M Tomás, J Lara, M de Toledo, I Barceló, L Iacampo, R Saiz-Diaz, D Sopelana, and A Sánchez-Larsen have no conflicts of interest., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Introduction: Status epilepticus is defined as the situation resulting from the failure of the mechanisms responsible for terminating an epileptic seizure. In 2015, an operational concept was adopted internationally in which two times are identified: a first time, at which treatment must begin (five minutes for convulsive status, 10-15 minutes for focal and non-convulsive status); and a second time, after which there is considered to be a high risk of subsequent sequelae (30 minutes in the case of the convulsive). It occurs in 3-42/100,000 children per year, who are refractory or super-refractory in 10-40% of cases., Development: This article will review the different therapeutic options for status, from early treatment at home to the different first-line (benzodiazepines), second-line (phenobarbital, valproic acid, phenytoin, levetiracetam and lacosamide) or third-line treatments, which include both pharmacological (anaesthetics, propofol, ketamine, lidocaine, topiramate, brivaracetam or perampanel) and non-pharmacological (ketogenic diet, immunomodulatory treatments or epilepsy surgery) therapies., Conclusions: Early identification and treatment of a prolonged crisis are essential to prevent progression to status. Although with fewer sequelae than in adults, status epilepticus in children represents a cause of mortality of up to 3-5%, while 25% of them will develop subsequent epilepsy, as well as a considerable percentage of neurological sequelae.

Objective: The appropriate management of patients with Dravet Syndrome (DS) is challenging, given the severity of symptoms and the burden of the disease for patients and caregivers. This study aimed to identify, through a qualitative methodology and a Delphi consensus-driven process, a set of recommendations for the management of DS to guide clinicians in the assessment of the clinical condition and quality of life (QoL) of DS patients, with a special focus on patient- and caregiver-reported outcomes (PROs)., Methods: This study was conducted in five phases, led by a multidisciplinary scientific committee (SC) including pediatric neurologists, epileptologists, a neuropsychologist, an epilepsy nurse, and members of DS patient advocates. In phases 1 and 2, a questionnaire related to patients' QoL was prepared and answered by caregivers and the SC. In phase 3, the SC generated, based on these answers and on a focus group discussion, a 70-item Delphi questionnaire, covering six topic categories on a nine-point Likert scale. In phase 4, 32 panelists, from different Spanish institutions and with a multidisciplinary background, answered the questionnaire. Consensus was obtained and defined as strong or moderate if ≥80% and 67-79% of panelists, respectively, rated the statement with ≥7. Phase 5 consisted of the preparation of the manuscript., Results: The panelists agreed on a total of 69 items (98.6%), 54 (77.14%), and 15 (21.43%) with strong and moderate consensus, respectively. The experts' recommendations included the need for frequent assessment of patient and caregivers QoL parameters. The experts agreed that QoL should be assessed through specific questionnaires covering different domains. Likewise, the results showed consensus regarding the regular evaluation of several clinical parameters related to neurodevelopment, attention, behavior, other comorbidities, and sudden unexpected death in epilepsy (SUDEP). A consensus was also reached on the instruments, specific parameters, and caregivers' education in the routine clinical management of patients with DS., Conclusions: This consensus resulted in a set of recommendations for the assessment of clinical and QoL parameters, including PROs, related to the general evaluation of QoL, neurodevelopment, attention, behavior, other comorbidities affecting QoL, SUDEP, and QoL of caregivers/relatives and patients with DS., Competing Interests: Author ÁA-S has received funding for educational and research activities from Angelini, Zogenix, UCB, PTC pharma, Blueprint genetics, GW, Eisai. Author AG-N has received advisory or research funds by Arvelle/Angelini, Bial, Biocodex, EISAI, Esteve, GW Pharma, Jazz Pharmaceuticals, PTC Therapeutics, Stoke, UCB Pharma and Zogenix. Author JA is president of the Dravet Syndrome Foundation Spain (DSF). He and/or the DSF have received grants and/or financial support from GW Pharma, Zogenix, Ovid Therapeutics, Encoded Therapeutics, Biocodex, Praxis, Health in Code, Takeda, UCB, Epygenix, Jazz Pharmaceuticals and StrideBio to help carry out some of the DSF's foundational activities or provide consulting services. Author JA honoraria have always been donated directly or indirectly to the DSF. Author RS-C has been a trial investigator for GW Pharmaceuticals, Takeda Pharmaceutical Company Ltd. Author and Zogenix and has served on advisory boards for Novartis, GW Pharmaceuticals, Biocodex and Zogenix. Author JG-P has received advisory or lecture funds by BIAL, EISAI, GW, NUTRICIA, SANOFI, UCB and ZOGENIX. VV has participated in advisory boards and symposia organized by Angellini, Bial, Eisai Inc., GW pharma, Novartis, Takeda, UCB, Zogenix. Author AM was employed by Dracaena Consulting SL. Author LA was employed by Apoyo Dravet. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Aledo-Serrano, Mingorance, Villanueva, García-Peñas, Gil-Nagel, Boronat, Aibar, Cámara, Yániz, Aras, Blanco and Sánchez-Carpintero.)

Aim: Ketogenic dietary therapies (KDT) produce anticonvulsant and neuroprotective effects, reduce seizures and improve the cognitive state in patients with epilepsy. Our purpose was to evaluate the effects of KDT in children with refractory epilepsy (effectiveness, side effects, impact on nutritional status and growth)., Methods: A retrospective and prospective observational descriptive study was conducted in a Spanish tertiary hospital (January 2000 to December 2018). One hundred sixty pediatric patients with epilepsy were treated with KDT (82 males; mean age 5 years 9 months). Seizures, anti-epileptic drugs, anthropometric measures, side effects, and laboratory assessment were monitored baseline and at 3, 6, 12 and 24 months after the onset of KDT., Results: In these time intervals, the seizure-free patients were: 13.7, 12.5, 14.4 and 10.6%, respectively, and a reduction of seizures ≥ 50% was achieved in 41.9, 37.5, 28.7 and 16.2%. Side effects were frequent, especially digestive disorders, hypercalciuria, hypoglycemia, hepatic dysfunction and dyslipidemia. Prealbumin, retinol binding protein, vitamin A and magnesium decreased significantly. Height was affected, especially in children below 2 years., Conclusions: KDT are effective for refractory epilepsy in children. However, adverse effects are frequent, and it may affect nutritional status and growth., (Copyright © 2021 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: The KCNB1 gene encodes a voltage-dependent potassium channel that regulates transmembrane currents in pyramidal neurons. Heterozygous variants have recently been associated with early-onset epileptic encephalopathies and intellectual disability, but their clinical characterisation has not yet been fully defined., Aim: To describe the clinical spectrum associated with variants of KCNB1 in paediatric patients., Patients and Methods: Retrospective study of four patients from three families with KCNB1 encephalopathy, including an analysis of the clinical and electroencephalographic features of epilepsy, associated neurological manifestations and neurodevelopmental pattern., Results: In two of them, the mutation in KCNB1 was de novo; the other two, who were sisters, inherited the variant from a parent with germline mosaicism. All had mild-to-moderate intellectual disability, two patients had autistic spectrum disorder and two had attention deficit hyperactivity disorder. Only case 2 displayed alterations in the MRI brain scan: progressive cortical atrophy. Three of them developed epilepsy (cases 1-3). Case 1: onset at 9.5 months with West syndrome that was well controlled with vigabatrine and zonisamide. Case 2: onset at 13 months with West syndrome, evolutionary development of polymorphic seizures (atonic, hypermotor, dysautonomic and tonic) that were refractory to 10 antiepileptic drugs and corticosteroids. Accompanied by a movement disorder characterised by ataxia, dyskinesias and tremor. Case 3: onset at 14.5 years with atonic seizures, multifocal EEG pattern and adequate control with levetiracetam., Conclusions: KCNB1 encephalopathy has a heterogeneous natural history, mainly with respect to epilepsy, ranging from patients with refractory epilepsy to patients without any epileptic seizures. All had neurodevelopmental disorders, such as intellectual disability or autism spectrum disorder, independent of epilepsy.

Background and Objectives: To determine the efficacy, tolerance, and safety of BRV in children with epilepsy., Methods: A retrospective study of patients with epilepsy who received treatment with BRV before age 16 years and underwent a minimum follow-up of 3 months., Method and Results: Sixty-six patients were included in the study. Patients received BRV at a mean age of 8.8 years (range 1-16 years). The majority (93.4 %) had refractory epilepsy, 27 with epileptic encephalopathy. The median maximum dose used was 4.3 mg/kg/day. In 30.3 % of the cases, seizure frequency was reduced by over 50 %, and 9 % remained seizure-free. Greater efficacy was observed in those patients who received higher doses and when a direct switch from levetiracetam (LEV) to BRV was performed. The ineffectiveness of LEV was not related to a failure to respond to BRV treatment. Side effects were identified in 24.2 % of the cases, the most frequent being irritability and drowsiness., Conclusions: BRV appears to be an effective, safe, and well-tolerated AED in children with refractory epilepsy., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Introduction: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship., Objective: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy., Methods: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire., Results: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients' parents reported that their child "slept well," although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics., Conclusions: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy., (Copyright © 2021 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Introduction: Cannabidiol (CBD) is one of the main components of the cannabis plant that has demonstrated anti-epileptic seizure effect. Following its clinical development, in September 2019 the European Medicines Agency approved its indication for the adjunctive therapy of epileptic seizures associated with Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS), combined with clobazam (CLB), in patients of 2 years of age and older., Aim: To establish recommendations on the use of plant-derived highly purified CBD on which Spanish experts have reached consensus for the treatment of epilepsy in patients with DS and LGS based on their clinical experience and the scientific evidence., Development: Consensus meeting with the participation of four Spanish neurologists and neuropediatric who are experts in epilepsy secondary to DS and LGS and with clinical experience in the use and management of CBD. They discussed on several topics, including posology (starting dose, dose escalation schema), efficacy (assessment of outcomes and indications for treatment withdrawal), and safety (evaluation, drug-drug interactions, adverse events management)., Conclusions: In order to optimise CBD treatment, a slow dose escalation (= 4 weeks) is recommended until the maximum recommended dose or the desire effect is reached. It is also recommended that the concomitant antiseizure medications (ASMs) be reduced in case of adverse events due to interactions, and that the treatment continues for at least 6 months if it is well tolerated. The efficacy and safety of CBD must be assessed individually, considering the benefits and risks for individual patients.

Aim: Ketogenic dietary therapies (KDT) produce anticonvulsant and neuroprotective effects, reduce seizures and improve the cognitive state in patients with epilepsy. Our purpose was to evaluate the effects of KDT in children with refractory epilepsy (effectiveness, side effects, impact on nutritional status and growth)., Methods: A retrospective and prospective observational descriptive study was conducted in a Spanish tertiary hospital (January 2000 to December 2018). One hundred sixty pediatric patients with epilepsy were treated with KDT (82 males; mean age 5 years 9 months). Seizures, anti-epileptic drugs, anthropometric measures, side effects, and laboratory assessment were monitored baseline and at 3, 6, 12 and 24 months after the onset of KDT., Results: In these time intervals, the seizure-free patients were: 13.7, 12.5, 14.4 and 10.6%, respectively, and a reduction of seizures≥50% was achieved in 41.9, 37.5, 28.7 and 16.2%. Side effects were frequent, especially digestive disorders, hypercalciuria, hypoglycemia, hepatic dysfunction and dyslipidemia. Prealbumin, retinol binding protein, vitamin A and magnesium decreased significantly. Height was affected, especially in children below 2 years., Conclusions: KDT are effective for refractory epilepsy in children. However, adverse effects are frequent, and it may affect nutritional status and growth., (Copyright © 2021 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Eslicarbazepine acetate (ESL) is a third-generation antiepileptic drug (AED) of the carboxamide family and structurally related to carbamazepine and oxcarbazepine, although it has pharmacological differences that may have relevant implications of clinical utility. Since 2009 in Europe, ESL has been indicated for use in adults as adjuvant therapy in patients with partial-onset seizures (currently called focal-onset), with or without secondary generalization (with or without evolution to bilateral tonic-clonic, in current terminology). In 2017, the indication for adjunctive therapy of patients with partial-onset seizures with or without secondary generalization was extended to its use as monotherapy in adults and as adjuvant therapy in adolescents and children older than 6 years. A group of experts carried out this review aimed at the aspects of most interest in the clinical practice of the use of ESL in the pediatric population, including differential aspects from other AEDs. Aspects such as efficacy, dosage, clinical response depending on age, tolerability and its management, neurocognitive and behavioral profile, need for monitoring of any analytical parameter, role of plasma level monitoring, possible added value of the once-daily administration, clinical situations in which the addition of ESL would be recommended, use with other sodium channel blockers, how to switch from carbamazepine/oxcarbazepine, potential interactions with other AEDs, potential interactions with drugs other than AEDs, and some practical issues that require additional research.

Teleneurology in Spain had not been implemented so far in clinical practice, except in urgent patients with stroke. Telemedicine was hardly used in epilepsy, and patients and neurologists usually preferred onsite visits. Our goal was to study impressions of adult and pediatric epileptologists about the use of telemedicine after emergent implementation during the new coronavirus 2019 (COVID-19) pandemic., Methods: An online survey was sent to the members of the Spanish Epilepsy Society and the members of the Epilepsy Study Group of the Catalan Neurological Society, inquiring about different aspects of telemedicine in epilepsy during the pandemic lockdown., Results: A total of 66 neurologists responded, mostly adult neurologists (80.3%), the majority with a monographic epilepsy clinic (4 out of 5). Of all respondents, 59.1% reported to attend more than 20 patients with epilepsy (PWE) a week. During the pandemic, respondents handled their epilepsy clinics mainly with telephone calls (88%); only 4.5% used videoconference. Changes in antiseizure medications were performed less frequently than during onsite visits by 66.6% of the epileptologists. Scales were not administered during these visits, and certain types of information such as sudden expected unrelated death in epilepsy (SUDEP) were felt to be more appropriate to discuss in person. More than 4 out of 5 of the neurologists (84.8%) stated that they would be open to perform some telematic visits in the future., Conclusions: In Spain, emergent implantation of teleneurology has shown to be appropriate for the care of many PWE. Technical improvements, extended use of videoconference and patient selection may improve results and patient and physician satisfaction., Competing Interests: Declaration of competing interest All authors declare no conflicts of interest related to this study., (Copyright © 2020. Published by Elsevier Inc.)

Introduction: Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with typical clinical features including seizures, chronic hemiplegia, hemianopsia and intellectual impairment. Progressive clinical decline may be attributable, at least in part, to progressive venous ischemia. Transcranial Doppler (TCD) ultrasonography could be useful to monitor the degree of hemodynamic involvement and its progression., Purpose: To determine whether there is an association between the degree of asymmetry in TCD and intensity of clinical and radiological involvement and whether there is a correlation between clinical changes and changes in serial TCD., Methods: In fourteen SWS pediatric patients and two "possible cases" (infants younger than two years old without previously known brain involvement, but with other typical signs of SWS) mean flow velocity in the middle cerebral arteries (MCA) was measured by TCD in both hemispheres. The percent difference between hemispheres (asymmetry) was calculated. Clinical and radiological severity was scored using scales. The correlation between TCD asymmetry and SWS clinical and radiological scores was analyzed at baseline, as well as the correlation between the changes in the different variables (TCD asymmetry, clinical and radiological cores) during evolution and in relation to the changes due to therapy., Results: The percentage of MCA velocity asymmetry was positively correlated with the clinical severity score (p = 0.04), and with seizure frequency (p = 0.014). Throughout evolution, therapeutic and clinical changes were associated with noticeable changes in transcranial doppler asymmetry in some cases., Conclusions: TCD may provide a noninvasive method to assess the severity of blood flow abnormalities at baseline and a method to monitor children for progressive changes over time., Competing Interests: Declaration of competing interest None., (Copyright © 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Background: The ketogenic diet (KD) is an effective treatment against drug-resistant epilepsy in children. The KD is a diet rich in fats that produces anticonvulsant and neuroprotective effects that reduces seizures and improves the cognitive state. Nevertheless, it can produce side effects that sometimes can be serious. Further, the effect on growth is quite controversial when used for an extended period of time. The aim of this paper was to assess the effectiveness, side effects, and repercussions in the development of children who have been treated with a KD for more than 2 years., Methods: Observational descriptive study of 26 pediatric patients on a KD, with data collection at baseline, at 3, 6, and 12 months, and then once a year. Number of seizures, type of seizures, anti-seizure drugs, anthropometry, side effects, and alterations in laboratory assessment were monitored., Results: In every assessment, about 60%-75% of the patients experienced a reduction in number of seizures of over 90%, and at least 50% experienced side effects, of which digestive issues, alteration in the lipid metabolism, and hypercalciuria were the most common. The KD significantly affected height after 2 years of treatment., Conclusions: The KD is an effective treatment for drug-resistant epilepsy. Its side effects, although common, are very mild; therefore, this constitutes a very safe treatment for children of all ages. More studies are needed to identify and prevent potential causes of growth retardation in children on the KD.

Objective: To develop recommendations for the management of patients with primary or secondary generalized tonic-clonic seizures (GTCS) based on best evidence and experience., Methods: The Delphi methodology was followed. A multidisciplinary panel of 10 experts was established, who defined the scope, users and preliminary recommendations. Systematic and narrative reviews of the current literature were performed to assess data on the risk of sudden unexpected death in epilepsy and the efficacy and safety of add-on therapy in patients with GTCS. Twenty-five definitive recommendations were generated which were then graded on a scale of 1 (totally disagree) to 10 (totally agree) by the experts and 45 neurologists. Consensus was reached if at least 70% of the participants applied a score of ≥7. Each recommendation was then assigned a level of evidence, a grade of agreement and a grade of recommendation. The entire process was supervised by an expert methodologist., Results: Overall, 24 out of 25 recommendations achieved consensus. These included specific recommendations on diagnosis, evaluation and treatment. The recommendations also emphasized the importance of proper psychological evaluation and effective communication between patients and health professionals, and the importance of patient and family education and support., Significance: The recommendations generated by this consensus can be used as a guide for the diagnosis and management of patients with GTCS., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

It is estimated that about 70 million people all over the world suffer from epilepsy, half of which are children, in whom the prevalence is around 0.5 to 0.8%. Although there are several therapies, the treatment of epilepsy is based mainly on drugs, which, depending on the year of coming onto the market are classified as first, second, or third generation. In this article, a description is presented on the main characteristics of the latest generation of anti-epileptic drugs (lacosamide, eslicarbazepine acetate, brivaracetam, perampanel, retigabine, everolimus and cannabidiol). These, with the exception of retigabine (is not yet on the market), are considered safe and effective in the paediatric population. Everolimus and cannabidiol have very specific indications (tuberous sclerosis, Dravet syndrome, and Lennox Gastaut syndrome), while the rest are indicated in the management of seizures of focal origin in children from 4 years-old. These new molecules have been developed in order to provide a pharmaceutical profile and tolerance superior to the previously available drugs, and it is forecast that as their use increases, their true potential and profile will widen. Furthermore, for the first time in Paediatric Epileptology, the extrapolation of the efficacy data in adults have been used (together with specific safety and pharmacokinetic studies in the paediatric population), in order to speed up their approval for use in the child population., (Copyright © 2019 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Paroxysmal episodes are one of the most common neurological disorders in children. It is important to distinguish between paroxysmal non-epileptic events, symptomatic seizures, febrile seizures, and unprovoked seizures. Patient's history is the key to proper diagnosis in most of the cases. A single unprovoked seizure is a frequent phenomenon in the pediatric population. Studies of recurrence after a first unprovoked seizure show percentages between 23% and 96% over a median follow-up of two years. The aim of this study is to define how to evaluate the first unprovoked epileptic seizure in a child and to review the weight of the different recurrence risk factors. Several factors enable us to predict the recurrence risk after a first unprovoked seizure including family history of epilepsy, prior history of febrile seizures, age at onset, type of seizure, prolonged seizures at onset, multiple seizures in a single day, sleep state, neurological abnormalities, etiology, and abnormalities in the electroencephalogram. The most important of these risk factors are the etiology of the seizures and the evidence of epileptiform abnormalities in the electroencephalogram.

We report on a child with multiple lesions of membranous aplasia cutis congenita of the scalp since birth who developed an extensive intracranial arteriovenous malformation several years later. Even in the absence of other clues to suggest intracranial anomalies, children with multiple scalp defects should be carefully surveyed and followed up in the long term., (© 2015 Wiley Periodicals, Inc.)

Introduction: School failure, learning and behavioral problems are more common in children with epilepsy than the general population. The aim of this study is to examine the different factors which can affect the school performance of children with epilepsy., Development: Various psychosocial, medication-related, and epilepsy-related factors may be associated with learning disorders in epilepsy. The age of onset of epilepsy, the type of syndrome, its aetiology, and the response to treatment are some of the most important epilepsy-related factors. All of the established antiepileptic drugs can produce cognitive side effects, which are increased with polypharmacy and with increasing dosage and anticonvulsant blood levels., Conclusions: Judicious management of all related factors is essential for an optimal outcome. Recent onset of educational problems in a child with epilepsy deserves immediate and exhaustive evaluation and management.