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Objectives: Many children with epilepsy experience seizures at school. School nurses must have the clinical expertise to deliver high-quality, safe care for students with epilepsy. However, in some regions of the U.S. access to interactive, epilepsy evidence-based education programs is limited. The objective of this project was to assess the feasibility of adapting the Epilepsy Foundation's (EFs) school nurse education program to the ECHO model and evaluate its impact on school nurse knowledge and self-efficacy in managing epilepsy in students with seizures and program satisfaction., Methods: The EFs educational program for school nurses was adapted to the ECHO model and delivered by a team of interdisciplinary epilepsy specialists via videoconferencing. Retrospective post-program surveys were administered at program completion. Data from 32 participants with complete post-program surveys were used for the analysis of knowledge and confidence. Descriptive statistics and the sign test were conducted., Results: Participants were 166 school nurses from 13 states. The majority had > 15 years of school nurse experience and served schools in suburban or rural areas. Improvements in knowledge and confidence were reported on most survey items. The highest improvements in self-reported knowledge and confidence were in psychosocial aspects of care, comorbidities, and recognition of nonepileptic events. Program satisfaction was rated as high by over 90% of participants., Conclusions: Telementoring using the ECHO methodology is a feasible modality to educate and link epilepsy specialists and providers with school nurses nationwide. Findings suggest that attending the MSS ECHO provided an educational and meaningful learning experience. The gains in knowledge and confidence in psychosocial aspects of epilepsy care and comorbidities highlight the importance of the inclusion of this content in educational programs., Competing Interests: Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Rebecca J. Schultz receives royalties from UpToDate on Rett Syndrome. Patricia O. Shafer is a consultant and speaker for Neurelis and was an employee of the Epilepsy Foundation at the time of this project. Steven Owens was an employee of the Epilepsy Foundation at the time of this project. Jody Kakacek was an employee of the Epilepsy Foundation at the time of this project. Kathleen Farrell is a current employee of the Epilepsy Foundation., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Objectives: Drug treatment for children with epilepsy should, ideally, be governed by evidence from adequate and well-controlled clinical studies. However, these studies are difficult to conduct, and so direct evidence supporting the informed use of specific drugs is often lacking. The Research Roundtable for Epilepsy (RRE) met in 2020 to align on an approach to therapy development for focal seizures in children age 1 month <2 years of age., Methods: The RRE reviewed the regulatory landscape, epidemiology, seizure semiology, antiseizure medicine pharmacology, and safety issues applicable to this population., Results: After reviewing evidence, the conclusion was that pediatric efficacy trials would be impracticable to conduct but a waiver of the regulatory requirement to conduct any study would lead to an absence of information to guide dosing in a critical population. Review of available data and discussion of RRE attendees led to the conclusion that the requirements for extrapolation of efficacy from older children down to infants from age 1 month to <2 years old appeared to be met. After the RRE, the US Food and Drug Administration (FDA) approved brivaracetam for use in children with focal epilepsy above the age of 1 month in August 2021 and lacosamide in October 2021, both based on the principle of extrapolation from data in older children., Significance: These recommendations should result in more rapid accessibility of antiseizure medications for infants., (© 2022 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Objective: To describe the organization of the Epilepsy Learning Healthcare System (ELHS), a network that aims to improve care outcomes for people with epilepsy (PWE)., Materials and Methods: Patients and family partners, providers, researchers, epidemiologists, and other leaders collaborated to recruit epilepsy centers and community services organizations into a novel learning network. A multidisciplinary Coordinating Committee developed ELHS governance and organizational structure, including four key planning Cores (Community, Clinical, Quality Improvement, and Data). Through Quality Improvement (QI) methodology grounded in the Institute for Healthcare Improvement (IHI) model, including iterative Plan-Do-Study-Act (PDSA) rapid learning cycles and other learning and sharing sessions, ELHS equipped epilepsy centers and community organizations with tools to standardize, measure, share, and improve key aspects of epilepsy care. The initial learning cycles addressed provider documentation of seizure frequency and type, and also screening for medication adherence barriers. Rapid learning cycles have been carried out on these initial measures in both clinical centers and community-based settings. Additional key measures have been defined for quality of life, screening, and treatment for mental health and behavioral comorbidities, transition from pediatric to adult care, counseling for women and girls living with epilepsy, referral for specialty care, and prevention and treatment of seizure clusters and status epilepticus., Results: It is feasible to adopt a learning healthcare system framework in epilepsy centers and community services organizations. Through structured collaboration between epilepsy care providers, community support organizations, PWE, and their families/caregivers we have identified new opportunities to improve outcomes that are not available in traditional care models., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Objective: To describe the prevalence and characteristics of comorbidities in persons with rare epilepsies., Study Design: Persons with rare epilepsies and caregivers of those affected were recruited through the Epilepsy Foundation and more than 30 rare epilepsy advocacy organizations affiliated with the Rare Epilepsy Network (REN). A web-based survey was conducted using a questionnaire consisting of core sections to collect data from affected persons on various aspects, including comorbidities. Comorbidity information was grouped into 15 classes, 12 of which had a stem question followed by detailed branch questions and 3 that were created from a combination of related questions., Results: Of 795 persons with more than 30 different rare epilepsy diagnosis groups, one-half had ≥5 comorbidity classes and 97% were classified as complex chronic disease (C-CD). The highest number of comorbidity classes reported per person were persons with Aicardi syndrome, Phelan-McDermid syndrome (median, 7.0; IQR, 5.0-9.0), and tuberous sclerosis complex (median, 6.0; IQR, 4.0-8.0). The most common comorbidity classes were learning/developmental disability (71%), mental health issues (71%), sleep disorders (60%), brain abnormalities (52%), oral issues (49%), bone-joint issues (42%), hyper/hypotonia (42%), and eye-vision disorders (38%). The prevalence of brain abnormalities, hyper/hypotonia, eye, and cardiac disorders was significantly higher in persons first diagnosed with epilepsy at a younger age (<9 months) than in those first diagnosed at an older age (P < .05 for trend)., Conclusions: Nearly all persons with rare epilepsies are medically complex, with a high prevalence of multiple comorbidities, especially those who were diagnosed with epilepsy in the first year of life. Comorbidities should be carefully considered in the diagnosis and management of persons with rare epilepsies., (Copyright © 2018 Elsevier Inc. All rights reserved.)

The randomized controlled trial is the unequivocal gold standard for demonstrating clinical efficacy and safety of investigational therapies. Recently there have been concerns raised about prolonged exposure to placebo and ineffective therapy during the course of an add-on regulatory trial for new antiepileptic drug approval (typically ∼6 months in duration), due to the potential risks of continued uncontrolled epilepsy for that period. The first meeting of the Research Roundtable in Epilepsy on May 19-20, 2016, focused on "Reducing placebo exposure in epilepsy clinical trials," with a goal of considering new designs for epilepsy regulatory trials that may be added to the overall development plan to make it, as a whole, safer for participants while still providing rigorous evidence of effect. This topic was motivated in part by data from a meta-analysis showing a 3- to 5-fold increased rate of sudden unexpected death in epilepsy in participants randomized to placebo or ineffective doses of new antiepileptic drugs. The meeting agenda included rationale and discussion of different trial designs, including active-control add-on trials, placebo add-on to background therapy with adjustment, time to event designs, adaptive designs, platform trials with pooled placebo control, a pharmacokinetic/pharmacodynamic approach to reducing placebo exposure, and shorter trials when drug tolerance has been ruled out. The merits and limitations of each design were discussed and are reviewed here., (© 2017 American Academy of Neurology.)

Purpose: The objective of this retrospective study was to identify clinical and EEG features in children with occipital epilepsy that predict MR imaging abnormalities and seizure outcome., Methods: Patients with clinical and/or EEG features indicating occipital lobe involvement were identified from the epilepsy database at a tertiary children's hospital. The clinical and EEG features were analyzed to identify the most important predictors of abnormal MR imaging and seizure outcome., Results: Sixty-six patients were identified: 21 had symptomatic epilepsy with abnormal MR imaging; 12 patients had probable symptomatic epilepsy based on an abnormal neurological exam; 33 patients had normal neurological development, normal neurological examination and normal neuroimaging. Twenty-two of these 33 patients satisfied criteria for idiopathic occipital syndromes: Panayiotopoulos syndrome (9 patients), Gastaut type idiopathic childhood occipital epilepsy (12 patients) and idiopathic photosensitive occipital epilepsy (1 patient). Eleven patients could not be classified. Early age of seizure onset and an abnormal neurological examination were significant predictors of abnormal MR imaging. None of the variables examined were strong predictors of seizure outcome., Conclusion: Early age of seizure onset and an abnormal neurological examination are the best predictors of abnormal MR imaging in children with epilepsy with occipital features., (© 2010. Published by Elsevier Ltd.)

Although the epileptic encephalopathies have a profound impact on neurological development, there has been limited progress made in the successful treatment of these disorders. This article suggests that the limited understanding of the pathophysiology of the encephalopathies, the lack of a good animal model of these disorders, the failure to understand the impact of etiology on response to treatment, and the absence of a reliable method for measurement of cognitive change in response to treatment are factors that contribute to the limited progress.

Background: Most estimates of the prevalence of seizure disorders in Canada derive from national surveys which differ in sampling and case-finding methods. This study used health care utilization data to make a population-based estimate of the prevalence of epileptic seizures and of epilepsy in children in British Columbia (BC)., Methods: All BC residents between 0-19 years-of-age in 2002-3 enrolled in the Medical Services Plan were included. Epileptic seizures were defined using ICD-9 codes; health care utilization data was obtained from BC Linked Health Database. The period prevalence of epileptic seizures and of epilepsy was determined by age, urban/rural region and socioeconomic status., Results: 8,125 of 1,013,816 children were identified as having an epileptic seizure of which 5621 were classified as epilepsy--5.5 per 1000 children (95% CI: 5.4-5.7). The prevalence of epilepsy in infants and preschoolers was higher than that reported in the literature. A higher prevalence of epilepsy was observed also among those with low socioeconomic status. A higher prevalence of epilepsy was observed in those health regions with a higher proportion of First Nations and a lower prevalence was observed in health regions with a higher proportion of visible minorities., Conclusions: Age-specific prevalence rates in BC children for epilepsy, determined from population-based administrative records, were similar to published data except in children under five years. We found a gradient of increased prevalence with decreased level of income. Prevalence rates based on utilization data have the potential to guide program planning for children with epileptic seizures.

This study examined the effect of vagus nerve stimulation on quality of life in children with epilepsy using a validated quality-of-life scale and an empirical technique that accounts for measurement error in assessing individual change (the reliable change index). Participants were 34 children with severe intractable epilepsy who underwent vagus nerve stimulation and 19 children with intractable epilepsy who received medical management. Parent-completed epilepsy-specific and global ratings at baseline and after 1 year indicated that most children had no changes in quality of life following vagus nerve stimulation (52%-77%), similar to the comparison group. There was a trend for decreases to be less common in the vagus nerve stimulation group (14% vs 37%, P < .07), but there was no relation between improved quality of life and seizure control. The results raise questions about the mechanisms that underlie changes in quality of life after vagus nerve stimulation in this group of children.

The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by denaturing high performance liquid chromatography and sequencing. All patients had seizure onset within the first 2 years of life. A higher proportion of mutations were identified in patients with SMEI (52/66; 79%) compared to patients with SMEB (25/36; 69%). By studying a broader spectrum of infantile epileptic encephalopathies, we identified mutations in other syndromes including cryptogenic generalized epilepsy (24%) and cryptogenic focal epilepsy (22%). Within the latter group, a distinctive subgroup designated as severe infantile multifocal epilepsy had SCN1A mutations in three of five cases. This phenotype is characterized by early onset multifocal seizures and later cognitive decline. Knowledge of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders.

Prior studies have found no adverse effects of pediatric epilepsy surgery on IQ. However, empirical techniques such as regression models, designed to account for confounding factors such as practice effects and test-retest reliability and able to provide a standardized method for evaluating outcome, have not been used in studying change after pediatric epilepsy. The goal of this study was to demonstrate the regression technique while empirically measuring the effect of epilepsy surgery on IQ in a group of pediatric patients. Predictors of retest IQ (e.g., baseline IQ, retest interval, demographics, epilepsy severity) were evaluated in a control group with intractable seizures (N = 23) assessed twice with the WISC-III. The resulting equation was used to evaluate IQ changes in a second group of children who underwent epilepsy surgery (N = 22). In controls, baseline IQ was a strong predictor of retest IQ. Number of AEDs was inversely related to retest IQ. Based on the control regression, four children (18%) in the surgical sample obtained significantly higher than expected postsurgical IQ scores and one child (5%) obtained a lower than expected IQ score. This study demonstrates that regression-based techniques yield informative estimates on outcome and may be an improvement over prior methods of measuring change after pediatric epilepsy surgery.

Purpose: Valproic acid (VPA) is an antiepileptic drug (AED) used for generalized and absence seizures. It has a rare but potentially fatal hepatotoxicity side effect, and many researchers believe that reactive metabolites of VPA could be involved. We demonstrated here that the thiol conjugates of (E)-2,4-diene VPA were significantly elevated in a high-risk group of patients., Methods: Thirty-four patients with seizures were divided into three groups. Group A (n = 14) were being treated with VPA; group B (n = 12) received VPA as well as other AEDs that do not induce P450-VPA metabolism; and group C (n = 8) received VPA and AEDs that induce P450-VPA metabolism. The NAC conjugates of (E)-2,4-diene VPA (NAC I and NAC II) were identified in the urine of patients by gas chromatography/mass spectrography NICI analysis., Results: VPA monotherapy (group A) or VPA polytherapy with non-P450-enzyme-inducing drugs (group B), showed that patients younger than 7.5 years excreted significantly higher concentrations of the two conjugates compared with older patients (older than 7.5 years) in the same groups (p < 0.05). Patients receiving VPA polytherapy with P450-enzyme-inducing drugs were all older than 7. 5 years (group C). They excreted significantly higher concentrations of NAC I and NAC II compared with patients in groups A and B who were older than 7.5 years (p < 0.05)., Conclusions: There were no significant differences in the excretion of NAC I and NAC II between patients in group C and those who were 7.5 years or younger in groups A and B. High doses of VPA also were a significant factor associated with elevated NAC I and NAC II among young patients and in polytherapy patients.

In this study, spectroscopic and chromatographic evidence is presented for the identification and characterization of the metabolites, valproyl glutamate (2-propylpentanoyl glutamate, VPA-GLU) and valproyl glutamine (2-propylpentanoyl glutamine, VPA-GLN) in the urine, serum, and cerebrospinal fluid (CSF) of patients on valproic acid (VPA) therapy. Moreover, the identification of valproyl glycine (2-propylpentanoyl glycine, VPA-GLY) in the serum and urine of patients on VPA, albeit in trace concentrations, is also reported here. The three amino acid conjugates excreted in urine accounted for about 1% of the VPA dose in four patients who were on VPA therapy chronically and had reached steady state. VPA-GLU was quantitatively the most prominent metabolite (0.66-13.1 microg/mg creatinine) compared with VPA-GLN (0.78-9.93 microg/mg creatinine) and VPA-GLY (trace-1.0 microg/mg creatinine) in overnight urine samples of all patients studied (n = 29). The relatively low serum concentrations of the three amino acid conjugates of VPA in six patients suggest that the metabolites are readily excreted once formed. In contrast, whereas VPA GLY was absent in the CSF of one patient on VPA, the concentrations of VPA-GLU and VPA-GLN in this CSF sample were 9 and 5 times, respectively, their corresponding serum concentrations.

Purpose: Validity studies on health-related quality of life (HRQOL) scales for pediatric epilepsy are few, and cross-validation with other samples has not been reported. This study was designed to assess the validity of three parent-rated measures of HRQOL in pediatric epilepsy: (a) the Impact of Childhood Illness Scale (ICI), (b) the Impact of Child Neurologic Handicap Scale (ICNH), and (c) the Hague Restrictions in Epilepsy Scale (HARCES)., Methods: Retrospective data were examined for 44 children with intractable epilepsy. Validity was assessed by evaluating differences across epilepsy severity groups as well as correlations between HRQOL scales and neurologic variables (seizure severity, epilepsy duration, current/prior antiepileptic medications) and psychosocial measures (emotional functioning, IQ, social skills, adaptive behavior). Scale overlap with a global QOL rating also was assessed., Results: The HRQOL measures were moderately to highly intercorrelated. The scales differed in terms of their associations with criterion measures. The HARCES was related to the highest number of neurologic variables and the ICNH to the fewest. All three scales were related to psychosocial functioning and to global quality of life., Conclusions: The results of this study suggest that the three measures are likely adequate measures of HRQOL for use in intractable childhood epilepsy. The measures were highly intercorrelated, and they were all broadly related to criterion measures reflecting specific domains of HRQOL as well as global QOL. Some differences between scales emerged, however, that suggest care in choosing HRQOL instruments for children with epilepsy.

The objective of this study was to examine the factors associated with the occurrence of behavioral and cognitive abnormalities in children treated with topiramate. A retrospective chart review of patients up to 18 years of age who had been treated with topiramate at a tertiary epilepsy center was performed. Behavioral or cognitive abnormalities were observed in 11 (14.6%) of 75 children between 2 weeks and 4 months after initiation of therapy. The mean dosage (4.6 mg/kg daily) at which these abnormalities were observed was similar to the mean final dose (5.8 mg/kg daily) in children without abnormalities. The mean rate of dosage increase was 0.72 mg/kg weekly and 0.7 mg/kg weekly in those with and without abnormalities, respectively. Five of the 11 children with behavioral or cognitive abnormalities had a previous history of behavioral or cognitive abnormalities, but only nine of the 64 children without abnormalities had a previous history of behavioral or cognitive abnormalities (P = 0.03). Lamotrigine was used concurrently in four of the 11 children with behavioral or cognitive abnormalities but in only seven of the 64 children without abnormalities (P = 0.05). Behavioral and cognitive abnormalities in children treated with topiramate do not appear to be related to the rate of dosage increase. A previous history of behavioral problems and the concurrent use of lamotrigine may be predisposing factors.

Video-EEG monitoring enables correlation of behavioral activity with EEG activity, which is useful in recognition of pseudoepileptic seizures and in investigation of patients for epilepsy surgery. Because most patients are monitored for a prolonged time as in-patients, the cost of the procedure is high. We investigated the value of brief (2-3 h) outpatient video-EEG monitoring in 43 children with frequent seizures, most of whom had symptomatic generalized epilepsy. Indications for monitoring included differentiation of epileptic from nonepileptic behavior, seizure classification, and determination of seizure frequency. Clinical episodes were recorded in 36 of 43 children (83%). A definite diagnosis was established in 9 of the 17 patients investigated to determine the nature of the clinical behavior. Seizures were classified in 15 of the 25 patients investigated to determine seizure type, and classification was different from the original in 9 of the 15 children. A change in epilepsy syndrome classification was made in 9 children. The video-EEG allowed diagnosis in 25 of the 43 children (59.5%). Video-EEG appears to be an effective method for outpatient investigation of children with frequent seizures, particularly those with symptomatic generalized epilepsy.

Because the effectiveness of an antiepileptic drug in controlling a particular seizure type and the prognosis for remission may differ between epileptic syndromes, accurate syndrome classification is crucial. However, a lack of universally accepted diagnostic criteria for some syndromes makes precise classification impossible in many patients. When syndromic classification is not possible, it is often more useful to consider genetic, clinical, electroencephalographic, neuropsychologic, radiologic, and other laboratory factors in characterizing the epileptic condition and selecting the optimal treatment.

Clobazam is a 1,5-benzodiazepine reported to have a wide spectrum of antiepileptic activity and is associated with less neurotoxicity than the 1,4-benzodiazepines, nitrazepam and clonazepam. The effect of clobazam on seizure control and neurologic behavior was examined prospectively in 115 children (average age: 8.4 years) with intractable seizures. Eighteen children (16%) became seizure free and a further 35 (31%) demonstrated a greater than 90% decrease in seizure frequency. Tolerance to the antiepileptic effect of clobazam was observed in 30 of 79 children (38%) who demonstrated an initial improvement in seizure control. Complete tolerance was observed in 9 patients, partial tolerance in 9, and partial tolerance that responded to an increased dose of clobazam in 12. Seventy-two percent of patients reported improvement and 26% worsening in at least one parameter of neurologic function after beginning clobazam. The improvement in neurologic function correlated poorly with change in seizure control. Patients who discontinued 1,4-benzodiazepine (n = 37) had a greater improvement in attention span, alertness, balance, drooling, and mood compared to the remainder of the group. These data suggest that clobazam is effective in the treatment of children with a wide range of epilepsies and seizure types and support the clinical impression that clobazam is associated with less neurotoxicity than the 1,4-benzodiazepines.

The pharmacokinetics of valproic acid (VPA) have been studied during peritoneal dialysis in a uremic male epileptic child following a single 500 mg dose and after multiple doses over 5 months (700 mg daily) of valproic acid as the syrup. Serum level decline was biphasic in both instances with a terminal half-life of 27.2 after the single dose and 10.2 h at steady-state. Total serum clearance was 0.0236 l/h/kg after the single dose and increased to 0.0408 l/h/kg after 5 months. Free (intrinsic) serum clearances were 0.1489 and 0.1518 l/h/kg and serum free fractions were 0.224 and 0.272 respectively for the single dose and steady-state studies. Peritoneal dialysis for periods of 12 or 24 h removed an average of 4.5% of the VPA dose.

In five of six epileptic children who were taking 18 to 49 mg/kg/day valproic acid (VPA), the steady-state serum free fractions of VPA rose from 12% to 43% when antipyretic doses of aspirin were also taken. Mean total VPA half-life (t1/2) rose from 10.4 +/- 2.7 to 12.9 +/- 1.8 hr and mean free VPA t1/2 rose from 6.7 +/- to 2.1 to 8.9 +2- 3.0 hr when salicylate was present in the serum. The in vitro albumin binding association constant (ka) for VPA was decreased by salicylate, but the in vivo ka value was not affected. The 12-hr (trough) concentrations of both free and total VPA were higher in the presence of serum salicylate in five of six patients. Renal excretion of unchanged VPA decreased in five of six patients, but the VPA carboxyl conjugate metabolite-excretion patterns were not consistently affected. Salicylate appeared to displace VPA from serum albumin in vivo, but the increased VPA t1/2 and changes in VPA elimination patterns suggest that serum salicylate also altered VPA metabolism.

Atonic seizures, atypical absence seizures, myoclonic seizures, tonic seizures, and infantile spasms are among the most difficult to control in children. Certain 1,4-benzodiazepines may be effective against these seizure types. Thus, clonazepam has been shown to reduce the frequency of absence, atypical absence, myoclonic, atonic, and complex partial seizures in children. Furthermore, both clonazepam and nitrazepam have been shown to be effective in the treatment of infantile spasms. However, their usefulness is limited by a deleterious effect on neurologic function, particularly on cognition. Controlled studies in animals and in adult patients and volunteers have demonstrated that clobazam has less neurotoxicity than 1,4-benzodiazepines and, in addition, may possess a psychotropic effect. Uncontrolled studies of clobazam in children suggest that this drug may be effective in the treatment of partial seizures, startle-induced seizures, infantile spasms, and Lennox-Gastaut syndrome. We studied the effect of clobazam in children whose seizures were resistant to most other antiepileptic drugs. Mental retardation was present in 80% of the children, and 62.5% had Lennox-Gastaut syndrome. Tolerance to clobazam developed in approximately one-third of patients, but this was frequently only partial and often responded to an increase in dosage. Of 50 children studied for a minimum of 3 months, seizures were controlled completely in 10 and frequency of seizures was reduced by more than 50% in a further 17. In most cases, parents observed a striking improvement in neurologic function, particularly in alertness, concentration, and balance. Thus, clobazam may be of value in the treatment of those seizures which are most difficult to control in children.

Neural tube, craniofacial, and other congenital abnormalities have been described in infants born to mothers with epilepsy who were treated with valproic acid (VPA) during pregnancy. The pathogenetic relationship between the congenital abnormalities and exposure to VPA is not clear. We describe 3 sibs born to a mother with epilepsy. Only the 2 sibs who were exposed to VPA in utero had certain of the characteristic craniofacial changes described in previous reports of children with similar exposure. In addition, the 2 affected children had other craniofacial and skeletal abnormalities which have not been reported previously as teratogenic sequelae of VPA exposure. Many of the minor anomalies present in the 2 affected patients resemble those observed in rhesus monkeys exposed to VPA in utero. This suggests that the abnormalities observed in the 2 children may have been a consequence of intrauterine exposure to VPA.

The diagnosis of mitochondrial encephalomyopathies is complex and a system for classification of the diagnosis as definite, probable, and possible has been proposed. The objective of this study was to explore the spectrum of epileptic disorders associated with probable and definite mitochondrial disease in children using this classification system. The patient population with mitochondrial disease and epilepsy was selected from a tertiary care children's hospital. Interictal electroencephalograms and video-EEG recordings were used to characterize seizure types. Ten children fulfilled the criteria for probable or definite mitochondrial disease and had epilepsy. Four had siblings with a similar clinical phenotype. Spasms were the most common seizure type and were the initial seizure type in seven patients and two siblings. Four patients had only partial seizures, with or without generalization, and one patient had seizures that were difficult to classify. Blood lactate concentrations were elevated consistently in patients with partial seizures alone but were occasionally normal in children with spasms. Spasms were the most common presenting seizure type in children with probable and definite mitochondrial disease. [ABSTRACT FROM AUTHOR]

Eyelid flutter is sometimes part of typical childhood absence epilepsy. In this study, the authors describe persistent, frequent, nonepileptic paroxysmal eyelid movements in 19 children and adults (17 females and 2 males) with well-controlled generalized epilepsy. The patients were identified from five epilepsy centers. All had generalized photosensitive epilepsy requiring antiepileptic drugs. In two children, paroxysmal eyelid movements began 2 to 4 years before their epilepsy was noted; in the remainder, it was noted when epilepsy was first diagnosed. Age at last follow-up was 8 to 38 years (average 21 years) with average follow-up of 9 years. All patients showed photosensitive generalized spike-wave discharges on EEG. Paroxysmal eyelid movements were a source of diagnostic confusion, but direct examination and video during EEG recording distinguished the attacks from absence seizures. In all cases, the epilepsy was well controlled with antiepileptic drugs, but the paroxysmal eyelid movements did not resolve with age. In 12 cases, there was a family history of the eyelid disorder without epilepsy. The authors suggest an association between paroxysmal eyelid movements and photosensitive generalized epilepsy.—Valerie Biousse [Copyright &y& Elsevier]