34,756 results match your criteria adolescents epilepsy

Facilitation of drug-resistant epilepsy and catastrophic status epilepticus in children with combined pituitary hormone deficiency.

Eur J Paediatr Neurol 2021 Jun 6;33:99-105. Epub 2021 Jun 6.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Germany; Faculty of Medicine, University of Freiburg, Germany; Department of Paediatrics and Department of Neuroscience, Cumming School of Medicine, University of Calgary, Canada; Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Canada.

Purpose: Clinicians and researchers often focus on the primary cause of seizures and epilepsy, but outcomes in individual patients also depend on multiple other variables, which might be easy to adjust. Previous studies suggest mutual interactions between endocrine disorders and epilepsy. We therefore hypothesized that combined pituitary hormone deficiency (CPHD) facilitates seizures and epilepsy. Read More

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The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.

Front Neurosci 2021 26;15:618098. Epub 2021 May 26.

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.

KIF1A is a microtubule-dependent motor protein responsible for fast anterograde transport of synaptic vesicle precursors in neurons. Pathogenic variants in have been associated with a wide spectrum of neurological disorders. Here, we report a patient presenting a severe neurodevelopmental disorder carrying a novel missense variant p. Read More

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Super-Refractory Status Epilepticus in Children: A Retrospective Cohort Study.

Pediatr Crit Care Med 2021 Jun 14. Epub 2021 Jun 14.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA. Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, MN. Department of Neurology, Division of Pediatric Neurology, Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI. Department of Child Neurology, Hospital Sant Joan de Déu, Universidad de Barcelona, Barcelona, Spain. Division of Neurology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA. Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Son Espases, Universitat de les Illes Balears, Palma, Spain. Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX. Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH. Department of Neurology and Pediatrics, University of Virginia Health System, Charlottesville, VA. Center for Neuroscience, Children's National Medical Center, George Washington University School of Medicine and Health Sciences, Washington, DC. Departments of Pediatrics and Neurology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO. Ruth D. & Ken M. Davee Pediatric Neurocritical Care Program, Northwestern University Feinberg School of Medicine, Chicago, IL. Division of Pediatric Neurology, Washington University Medical Center, Washington University School of Medicine, Saint Louis, MO. Section of Pediatric Critical Medicine, Department of Pediatrics, Baylor College of Medicine, Houston, TX. Division of Child Neurology, Department of Neurology, Columbia University Medical Center, Columbia University, New York, NY. Division of Pediatric Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL. Division of Pediatric Neurology, Duke University Medical Center, Duke University, Durham, NC. Department of Neurology, Division of Pediatric Neurology, University of Washington, Seattle, WA. Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA. Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University. Columbus, OH. Department of Pediatrics, Division Pediatric Neurology, Neuro-Critical Care Program, Oregon Health and Science University, Portland, OR. Division of Critical Care, Departments of Neurology, Anesthesiology, Perioperative and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA. Critical Care and Pediatrics, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA. Department of Child Health, University of Arizona College of Medicine and Barrow's Neurological Institute at Phoenix Children's Hospital, Phoenix, AZ.

Objectives: To characterize the pediatric super-refractory status epilepticus population by describing treatment variability in super-refractory status epilepticus patients and comparing relevant clinical characteristics, including outcomes, between super-refractory status epilepticus, and nonsuper-refractory status epilepticus patients.

Design: Retrospective cohort study with prospectively collected data between June 2011 and January 2019.

Setting: Seventeen academic hospitals in the United States. Read More

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The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.

J Hum Genet 2021 Jun 11. Epub 2021 Jun 11.

Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The disease usually starts with adolescent onset seizures followed by progressive dementia, refractory status epilepticus and eventually death within 10 years of onset. Read More

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KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Brain 2021 Jun 11. Epub 2021 Jun 11.

Pediatric Neurology Department, Lyon University Hospital, 69500 Bron, France.

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy ((AD)SHE) to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies (DEE). This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 unpreviously published and 182 published cases, the largest cohort reported so far. Read More

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Clinical presentation of new onset refractory status epilepticus in children (the pSERG cohort).

Epilepsia 2021 Jun 6. Epub 2021 Jun 6.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Objective: We aimed to characterize the clinical profile and outcomes of new onset refractory status epilepticus (NORSE) in children, and investigated the relationship between fever onset and status epilepticus (SE).

Methods: Patients with refractory SE (RSE) between June 1, 2011 and October 1, 2016 were prospectively enrolled in the pSERG (Pediatric Status Epilepticus Research Group) cohort. Cases meeting the definition of NORSE were classified as "NORSE of known etiology" or "NORSE of unknown etiology. Read More

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Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study.

J Neurol Sci 2021 May 21;427:117506. Epub 2021 May 21.

Child Neuropsychiatry Unit - Epilepsy Center, ASST SS. Paolo e Carlo, San Paolo Hospital, Milan, Italy; Department of Health Sciences, University of Milan, Italy.

Epilepsy surgery is recommended in selected patients with Tuberous Sclerosis Complex (TSC). However, reports on predictive factors of seizure outcome are variable. Here we report on seizure and cognitive outcome of 35 TSC patients who received surgery for refractory epilepsy in 7 Italian centers over a period of 22 years (1997-2019). Read More

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Porphyria attacks in prepubertal children and adolescents.

Mol Genet Metab 2021 May 7. Epub 2021 May 7.

Department of Pediatrics, Division of Pediatric Endocrinology, IPS Universitaria Universidad de Antioquia, Medellin, Colombia.

Context: The clinical and laboratory features of dominant acute hepatic porphyrias (AHPs) in prepubertal children and adolescents have not been well established.

Objective: To evaluate clinical and laboratory features of AHPs in prepubertal children and adolescents compared to adults.

Data Sources: OVID (Embase Classic+Embase and MEDLINE), Scopus, and Google Scholar. Read More

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Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

Neurology 2021 Jun 2. Epub 2021 Jun 2.

Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy.

Objective: To describe the clinical and genetic findings in a cohort of subjects with bathing epilepsy, a rare form of reflex epilepsy.

Methods: We investigated by Sanger and targeted re-sequencing the gene in 12 individuals from 10 different families presenting with seizures primarily triggered by bathing or showering. Additional twelve subjects with hot-water epilepsy were also screened. Read More

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Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.

Orphanet J Rare Dis 2021 Jun 2;16(1):250. Epub 2021 Jun 2.

Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University Frankfurt, Schleusenweg 2-16, 60528, Frankfurt am Main, Germany.

Background: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter study estimated the costs and related cost drivers associated with organ manifestations in adults with TSC.

Methods: A validated, three-month, retrospective questionnaire assessed the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket (OOP), and nursing care-level costs among adult individuals with TSC throughout Germany from a societal perspective (costing year: 2019). Read More

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Perampanel effectiveness and tolerability in patients with epilepsy at long-term follow-up.

Epilepsy Behav 2021 May 30;121(Pt A):108069. Epub 2021 May 30.

Epilepsy Centre, Department of Systems Medicine, University of Rome 'Tor Vergata", Rome, Italy; Neurology Unit, University Hospital of Rome "Tor Vergata", Rome, Italy. Electronic address:

Introduction: The main of the present study was to assess the effectiveness and tolerability of perampanel (PER) in association with 1 or 2 concomitant antiseizure medications (ASMs) in patients with epilepsy throughout a follow-up period of 24 months or longer in a real-world setting.

Methods: This retrospective, observational, multi-center study collected data from both underage (<18 years old) and adult patients who had started PER in association with 1 or 2 ASMs. Only patients who had started PER and were followed up for at least 24 months were included. Read More

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Incidence and prevalence of psychogenic nonepileptic seizures in a Norwegian county: A 10-year population-based study.

Epilepsia 2021 Jun 2. Epub 2021 Jun 2.

Division of Clinical Neuroscience, National Center for Epilepsy, Oslo University Hospital, Oslo, Norway.

Objective: This study was undertaken to measure the incidence and prevalence of active psychogenic nonepileptic seizures (PNES) in a Norwegian county.

Methods: Using the Norwegian patient registry, we identified patients in Møre and Romsdal County in Norway diagnosed with F44.5 (conversion disorder with seizures or convulsions) or R56. Read More

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Agitation and Sugar Craving Related to Epilepsy Seizure.

Case Rep Psychiatry 2021 3;2021:9969854. Epub 2021 May 3.

Landmo Nursing Home and Rehabilitation Center, Nordre Land, Norway.

Introduction: Epilepsy is a chronic central nervous system disorder characterized by the recurrence of unprovoked seizures and can affect people of all ages. Seizure symptoms can vary widely in patients. Many papers have been published about agitation and epileptic seizures, but almost nothing about sugar cravings and agitation related to epilepsy. Read More

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Deep-Phenotyping the Less Severe Spectrum of Deficiency and Linking the Gene to Myoclonic Atonic Seizures.

Front Genet 2021 11;12:663643. Epub 2021 May 11.

Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.

The two aims of this study were (i) to describe and expand the phenotypic spectrum of deficiency in affected individuals harboring the c.1582G>A; p.Val528Met or the c. Read More

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Epilepsia 2021 May 26. Epub 2021 May 26.

Department of Neuropediatrics, APHP Sorbonne University, Trousseau Hospital, Paris, France.

CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. Read More

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Systemic and cerebrospinal fluid immune and complement activation in Ugandan children and adolescents with long-standing nodding syndrome: A case-control study.

Epilepsia Open 2021 Jun 12;6(2):297-309. Epub 2021 Mar 12.

Makerere University College of Health Sciences, Kampala, Uganda.

Objective: Nodding syndrome is a poorly understood epileptic encephalopathy characterized by a unique seizure type-head nodding-and associated with Onchocerca volvulus infection. We hypothesized that altered immune activation in the cerebrospinal fluid (CSF) and plasma of children with nodding syndrome may yield insights into the pathophysiology and progression of this seizure disorder.

Method: We conducted a case-control study of 154 children (8 years or older) with long-standing nodding syndrome and 154 healthy age-matched community controls in 3 districts of northern Uganda affected by nodding syndrome. Read More

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Analyses of seizure responses supportive of a novel trial design to assess efficacy of antiepileptic drugs in infants and young children with epilepsy: Post hoc analyses of pediatric levetiracetam and lacosamide trials.

Epilepsia Open 2021 Jun 3;6(2):359-368. Epub 2021 May 3.

UCB Pharma, Raleigh, NC, USA.

Objective: Recently, a novel trial design has been proposed to overcome challenges with traditional placebo-controlled trials of antiepileptic drugs in infants and young children (≥1 month of age) (Auvin S, et al. Epilepsia Open 2019;4:537-43). The proposed time-to-event trial design involves seizure counting by caregivers and allows adjustment of the duration of the baseline period and duration of exposure to placebo or potentially ineffective treatment based on the patient's seizure burden and response. Read More

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Hyperventilation maneuver during EEG in children with epilepsy after the COVID-19 pandemic. Is a routine procedure necessary?

Epilepsia Open 2021 06 12;6(2):437-442. Epub 2021 May 12.

Clinica Integral de Epilepsia Infanto-juvenil, Santiago, Chile.

Objective: Hyperventilation (HV) is one of the main and basic activation methods during ambulatory electroencephalogram (EEG), unless medical reasons contraindicate it. During the COVID-19 pandemic, with the high risk of human-to-human infection, local guidelines and recommendations have been developed that suggest not to perform the HV maneuver routinely. Our objective was to characterize patients who present positive HV in an epilepsy center. Read More

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Psychiatric Disorders in Children and Adolescents With Psychogenic Nonepileptic Seizures.

Neurology 2021 May 24. Epub 2021 May 24.

Psychiatry, Aalborg University Hospital, Denmark.

Objective: Knowledge regarding psychiatric disorders in children and adolescents with psychogenic nonepileptic seizures (PNES) is limited. This study outlines the spectrum and risk of psychiatric disorders in childhood-onset PNES.

Methods: A nationwide matched cohort study of children and adolescents with PNES aged 5-17 years at time of diagnosis between January 1, 1996 and December 31, 2014. Read More

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Improved everyday executive functioning following profound reduction in seizure frequency with fenfluramine: Analysis from a phase 3 long-term extension study in children/young adults with Dravet syndrome.

Epilepsy Behav 2021 May 20;121(Pt A):108024. Epub 2021 May 20.

University of California San Francisco, Benioff Children's Hospital, 1975 4th Street, San Francisco, CA 94158, USA.

Objective: Individuals with Dravet syndrome (DS) experience frequent pharmacoresistant seizures beginning in infancy. Most exhibit poor neurodevelopmental outcomes including motor function difficulties, behavior problems, and cognitive impairment. Cognitive deficits in children with DS have been associated with seizure frequency and antiseizure medication (ASM) use. Read More

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Time to Treatment in Pediatric Convulsive Refractory Status Epilepticus: The Weekend Effect.

Pediatr Neurol 2021 Jul 26;120:71-79. Epub 2021 Mar 26.

Department of Pediatric Neurology, Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, Wisconsin.

Background: Time to treatment in pediatric refractory status epilepticus is delayed. We aimed to evaluate the influence of weekends and holidays on time to treatment of this pediatric emergency.

Methods: We performed a retrospective analysis of prospectively collected observational data of pediatric patients with refractory status epilepticus. Read More

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Cognitive outcome in children with infantile spasms using a standardized treatment protocol. A five-year longitudinal study.

Seizure 2021 May 11;89:73-80. Epub 2021 May 11.

Ste-Justine Hospital, Department of Pediatrics & Research Center, Canada.

Aim: To evaluate the long-term developmental trajectory of children with infantile spasms (IS) and identify the clinical protective and risk factors associated with their cognitive outcome.

Methods: We analyzed the five-year follow-up results of 41 children (13 female) from the previously published cohort (n = 68) recruited in a multicenter randomized controlled trial for 2-years, examining the effect of an adjunctive therapy (Flunarizine) on standardized IS treatment. The children were subsequently monitored in an open-label study for additional 3 years. Read More

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Physical-mental multimorbidity in children and youth: a scoping review.

BMJ Open 2021 05 20;11(5):e043124. Epub 2021 May 20.

School of Public Health and Health Systems, University of Waterloo, Waterloo, Ontario, Canada

Objective: Efforts to describe the current state of research are needed to advance the field of physical-mental multimorbidity (ie, the co-occurrence of at least one physical illness and at least one mental disorder) among children and youth. Our objective was to systematically explore the breadth of physical-mental multimorbidity research in children and youth and to provide an overview of existing literature topics.

Design: Scoping review. Read More

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Efficacy and tolerability of lamotrigine in the treatment of focal epilepsy among children and adolescents: a meta-analysis.

Transl Pediatr 2021 Apr;10(4):807-818

Center for Evidence-Based Medicine, Capital Institute of Pediatrics, Beijing, China.

Background: Epilepsy is the most common chronic neurological disease in children, and focal epileptic seizures are the most common subtype. Unlike the data supporting treatment options for adults with epilepsy, evidence regarding the most effective first-line drug therapy for focal epilepsy in children and adolescents is limited. While lamotrigine is a therapeutic option for adults, there are disagreements surrounding its efficacy and tolerability in the younger population. Read More

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The effect of ketogenic diet escalation in adolescents and adults with drug-resistant epilepsy: a prospective study.

Nutr Neurosci 2021 May 20:1-10. Epub 2021 May 20.

Faculty of Medicine, Neurology Department, Cairo University, Cairo, Egypt.

Background: Ketogenic diet (KD) is an accepted and effective treatment modality in patients with drug-resistant epilepsy (DRE). Different versions of ketogenic diets have been studied, however, the effect of ratio escalation in adolescence and adults has not been previously investigated.

Methods: The current open-labeled interventional study was conducted on 80 patients with drug-resistant epilepsy DRE, 40 patients (intervention group) were exposed to dietary intervention besides their regular antiseizure medication (ASM) and compared to 40 control patients. Read More

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Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.

Am J Med Genet A 2021 May 19. Epub 2021 May 19.

Child and Adolescent Neurology and Psychiatry Unit, Children Hospital, ASST Spedali Civili of Brescia, Brescia, Italy.

Cerebral folate transporter deficiency syndrome, caused by FOLR-1 mutations is characterized by late infantile onset, severe developmental regression, epilepsy, and leukodystrophy. An extremely low concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid provides a crucial clue to its diagnosis and is a treatment target. Oral or intravenous folinic acid (5-formyltetrahydrofolate) administration improves clinical symptoms and brain magnetic resonance imaging (MRI) findings. Read More

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Management of CLN1 Disease: International Clinical Consensus.

Pediatr Neurol 2021 Jul 9;120:38-51. Epub 2021 Apr 9.

Taylor's Tale, Charlotte, North Carolina.

Background: CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase 1 (PPT1) enzyme deficiency. Clinical features include developmental delay, psychomotor regression, seizures, ataxia, movement disorders, visual impairment, and early death. In general, the later the age at symptom onset, the more protracted the disease course. Read More

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The attention networks in benign epilepsy with centrotemporal spikes: A long-term follow-up study.

J Clin Neurosci 2021 Jun 29;88:22-27. Epub 2021 Mar 29.

Department of Neurology, Anhui Provincial Children's Hospital, Hefei 230051, PR China. Electronic address:

Purpose: To evaluate the long-term prognosis of attention deficit in children with newly diagnosed benign childhood epilepsy with centrotemporal spikes (BECTS).

Methods: Attention network test (ANT) was performed over a period of 7 years on 42 patients who were newly diagnosed with BECTS, in the Department of Neurology of Anhui Provincial Children's Hospital.

Results: In the patients' group, the accuracy of ANT was lower (P = 0. Read More

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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

J Appl Genet 2021 May 12. Epub 2021 May 12.

Department of Paediatrics, Division of Paediatric Propaedeutics and Rare Disorders, Medical University, Wroclaw, Poland.

Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Read More

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Stiripentol (Diacomit) for Dravet syndrome.


Med Lett Drugs Ther 2021 03 22;63(1620):e48-e50. Epub 2021 Mar 22.

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