783 results match your criteria Women's Health and Epilepsy

Intravenous Ganaxolone for the Treatment of Refractory Status Epilepticus: Results from an Open-Label, Dose-Finding, Phase 2 Trial.

Epilepsia 2022 Jun 24. Epub 2022 Jun 24.

Marinus Pharmaceuticals, Radnor, PA.

Objective: Patients with refractory status epilepticus (RSE) have failed treatment with benzodiazepines and ≥1 second-line intravenous (IV) anti-seizure medication (ASM). Guidelines recommend IV anesthesia when second-line ASMs have failed, but potential harms can outweigh benefits. Novel treatments are needed to stop and durably control RSE without escalation to IV anesthetics. Read More

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Snotwatch: an ecological analysis of the relationship between febrile seizures and respiratory virus activity.

BMC Pediatr 2022 Jun 22;22(1):359. Epub 2022 Jun 22.

Department of Paediatrics, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria, Australia.

Background: Febrile seizures are the commonest type of seizure in occurring in the first few years of life, mostly affecting children aged six months to five years old. While largely benign, the incidence of each febrile seizure increases the risk of recurrence, afebrile seizures and epilepsy. Viruses are the most frequent cause of febrile illnesses in which a febrile seizure occurs. Read More

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Expanding the Molecular Spectrum of Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.

Int J Mol Sci 2022 May 25;23(11). Epub 2022 May 25.

Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.

KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 () haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using a multi-testing genomic approach, including gene sequencing, Chromosome Microarray Analysis (CMA), and RT-qPCR gene expression assay, we searched for pathogenic alterations in . Read More

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Genetic therapeutic advancements for Dravet Syndrome.

Epilepsy Behav 2022 Jul 30;132:108741. Epub 2022 May 30.

UCL Institute for Women's Health, 86-96 Chenies Mews, London WC1E 6HX, UK. Electronic address:

Dravet Syndrome is a genetic epileptic syndrome characterized by severe and intractable seizures associated with cognitive, motor, and behavioral impairments. The disease is also linked with increased mortality mainly due to sudden unexpected death in epilepsy. Over 80% of cases are due to a de novo mutation in one allele of the SCN1A gene, which encodes the α-subunit of the voltage-gated ion channel Na1. Read More

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Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population-based study.

Epilepsia 2022 Jun 2. Epub 2022 Jun 2.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Objective: Existing data suggest that epilepsy presenting in the first few years of life carries a worse prognosis than later onset. However, studies are few and methods differ, making interpretations of data uncertain. This study analyzes outcome at age 7 and potential prognostic factors in a well-characterized population-based cohort with epilepsy onset during the first 2 years of life. Read More

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Hospital service use for young people with chronic health conditions: A population-based matched retrospective cohort study.

J Paediatr Child Health 2022 May 31. Epub 2022 May 31.

Australian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia.

Aim: This study aims to identify the hospitalised morbidity associated with three common chronic health conditions among young people using a population-based matched cohort.

Methods: A population-level matched case-comparison retrospective cohort study of young people aged ≤18 years hospitalised with asthma, type 1 diabetes (T1D) or epilepsy during 2005-2018 in New South Wales, Australia using linked birth, health and mortality records. The comparison cohort was matched on age, sex and residential postcode. Read More

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Neurological factors and Cesarean section in Australian women with epilepsy.

Epilepsy Behav 2022 Jul 27;132:108740. Epub 2022 May 27.

Royal Brisbane and Women's Hospital and School of Medicine and Biomedical Science, University of Queensland, Brisbane, QLD 4027, Australia.

Objectives: To analyze the records of the pregnancies of 2283 Australian women with epilepsy in the Australian Register of Antiepileptic Drugs in Pregnancy database to identify neurological factors relevant to the Cesarean sections carried out in these pregnancies.

Results: The Cesarean section rate in Australian women overall increased by an average of 0.59% annually over 20 years, from 26. Read More

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The impact of childhood epilepsy on academic performance: A population-based matched cohort study.

Seizure 2022 Jul 18;99:91-98. Epub 2022 May 18.

Australian Institute of Health Innovation, Macquarie University, Sydney, Australia.

Objectives: To compare academic performance and high school completion of young people admitted to hospital with epilepsy and matched peers from the general population not admitted to hospital with epilepsy during the study period.

Methods: A population-based matched case-comparison cohort study of young people aged ≤18 years hospitalised with epilepsy during 2005-2018 in New South Wales, Australia, using linked birth, health, education, and mortality records. The comparison cohort was matched on age, sex, and residential postcode. Read More

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Epidemiology and risk factors for sleep disturbances in children and youth with cerebral palsy: An ICF-based approach.

Sleep Med 2022 Aug 13;96:93-98. Epub 2022 May 13.

Neurology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore.

OBJECTIVES AND BACKGROUND: Children with cerebral palsy are at risk for sleep disorders, and there is a complex relationship between sleep and physical, environmental and functional factors in such children. The WHO International Classification of Functioning, Disability and Health model serves as a universal framework for describing and organizing functioning and disability. This study aimed to describe sleep disturbances in Singaporean children and youth with cerebral palsy, and develop a holistic framework for evaluating risk factors and potential management strategies for poor sleep. Read More

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Clin Genet 2022 May 26. Epub 2022 May 26.

Institute of Human Genetics, University of Münster, Münster, Germany.

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Read More

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Anticonvulsant Effect of Carbenoxolone on Chronic Epileptic Rats and Its Mechanism Related to Connexin and High-Frequency Oscillations.

Front Mol Neurosci 2022 9;15:870947. Epub 2022 May 9.

Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China.

Objective: This study was designed to investigate the influence and mechanism of gap junction carbenoxolone (CBX) on dynamic changes in the spectral power of ripples and fast ripples (FRs) in the hippocampus of chronic epileptic rats.

Methods: The lithium-pilocarpine (PILO) status epilepticus (SE) model (PILO group) and the CBX pretreatment model (CBX + PILO group) were established to analyze dynamic changes in the spectral power of ripples and FRs, and the dynamic expression of connexin (CX)26, CX32, CX36, and CX43 in the hippocampus of chronic epileptic rats.

Results: Within 28 days after SE, the number of spontaneous recurrent seizures (SRSs) in the PILO group was significantly higher than that in the CBX + PILO group. Read More

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Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort.

Front Pediatr 2022 6;10:892445. Epub 2022 May 6.

Neuroradiology, Department of Neurological Sciences, University of Padova, Padova, Italy.

Background: Moyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6-10% of all childhood strokes and transient ischemic attacks (TIAs).

Methods: We conducted a retrospective multicenter study on pediatric-onset MMD/MMS in Italy in order to characterize disease presentation, course, management, neuroradiology, and outcome in a European country.

Results: A total of 65 patients (34/65 women) with MMD (27/65) or MMS (38/65) were included. Read More

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Effect of Topiramate on Serum Etonogestrel Concentrations Among Contraceptive Implant Users.

Obstet Gynecol 2022 04 10;139(4):579-587. Epub 2022 Mar 10.

Division of Family Planning, Department of Obstetrics and Gynecology, University of Colorado Anschutz Medical Campus, Aurora, Colorado; and the Department of Obstetrics and Gynecology, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, Ohio.

Objective: To evaluate topiramate and etonogestrel pharmacokinetic interactions in contraceptive implant users.

Methods: We conducted a prospective, noninferiority study with healthy women using etonogestrel implants continuously for 12-36 months. We measured baseline serum etonogestrel concentrations and then began a 6-week titrated topiramate regimen to standard migraine (100 mg/day) and epilepsy (400 mg/day) dosages. Read More

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The role of Australian clinical quality registries in pregnancy care: A scoping review.

Aust N Z J Obstet Gynaecol 2022 May 11. Epub 2022 May 11.

Department of Obstetrics and Gynaecology, The University of Melbourne, Parkville, Victoria, Australia.

Background: Pregnancy represents a time of increased morbidity and mortality for women and their infants. Clinical quality registries (CQRs) collect, analyse and report key healthcare quality indicators for patient cohorts to improve patient care. There are limited data regarding existing CQRs in pregnancy. Read More

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Lissencephaly causing refractory neonatal seizures in a term neonate.

BMJ Case Rep 2022 05 6;15(5). Epub 2022 May 6.

Neonatal Intensive Care Unit (NICU), Women's Wellness and Research Center (WWRC), Hamad Medical Corporation (HMC), Doha, Qatar

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Reproductive Health Counseling in Adolescent Women With Epilepsy: A Single-Center Study.

Pediatr Neurol 2022 Jun 20;131:49-53. Epub 2022 Apr 20.

Department of Population Health Sciences and Pediatrics, New York-Presbyterian/Weill Cornell Medicine Center, New York, New York. Electronic address:

Background: Counseling adolescent women with epilepsy (WWE) about reproductive health (contraception, sexual activity, and menstruation) is important given the teratogenicity of many antiseizure medications and high rates of contraception failure. Only a third of adolescent WWE report discussing contraception with their epileptologists, demonstrating a significant gap in counseling.

Methods: We assessed factors associated with reproductive health counseling by pediatric neurologists via a retrospective chart review of adolescent (aged 12-18 years) WWE seen at a pediatric neurology clinic from 2018 to 2020. Read More

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Association of Perinatal and Childhood Ischemic Stroke With Attention-Deficit/Hyperactivity Disorder.

JAMA Netw Open 2022 04 1;5(4):e228884. Epub 2022 Apr 1.

Neuropediatric Unit, Department of Women's and Children's Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.

Importance: Early detection of attention-deficit/hyperactivity disorder (ADHD) plays a crucial role in reducing negative effects on everyday life, including academic failure and poor social functioning. Children who survive ischemic strokes risk major disabilities, but their risk of ADHD has not been studied in nationwide cohorts.

Objective: To assess the risk of ADHD in children after pediatric ischemic stroke. Read More

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Caring for women with epilepsy in Palestine: A qualitative study of the current status.

Epilepsy Behav 2022 May 7;130:108689. Epub 2022 Apr 7.

Master of Pharmacology Program, Faculty of Graduate Studies, An-Najah National University, Nablus, Palestine.

Objective: This qualitative study was conducted to explore the current status of caring for women with epilepsy (WWE) in the Palestinian healthcare system.

Methods: This study used an explorative qualitative design. A purposive sampling technique was used to recruit the participants. Read More

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Am J Hum Genet 2022 04;109(4):601-617

The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.

Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to regulate cell-cycle progression and cell growth and survival by targeting substrates including CYCLIN E1/2 and NOTCH for degradation via the ubiquitin proteasome system. We used a genotype-first approach and global data-sharing platforms to identify 35 individuals harboring de novo and inherited FBXW7 germline monoallelic chromosomal deletions and nonsense, frameshift, splice-site, and missense variants associated with a neurodevelopmental syndrome. Read More

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Women's Issues in Epilepsy.

Esther Bui

Continuum (Minneap Minn) 2022 04;28(2):399-427

Purpose Of Review: Issues pertaining to women with epilepsy have advanced with a better understanding of multidirectional influences among hormones, seizures, and antiseizure medications, as well as pregnancy-related concerns around fertility, seizure destabilization, and antiseizure medication-associated teratogenicity. This article highlights important developments in this field and reviews best practices in the management of women with epilepsy.

Recent Findings: Important external hormonal influences may impact women with epilepsy particularly in the context of gender-affirming medications, hormonal replacement therapy, and fertility therapies. Read More

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Overlapping cortical malformations in patients with pathogenic variants in and .

J Med Genet 2022 Apr 7. Epub 2022 Apr 7.

Pediatric Neurology, Necker Enfants Malades Hospital, Université de Paris, Paris, France.

Background: Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in or , genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this study was to further define the phenotypic spectrum of NMDAR-related MCDs.

Methods: We report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported individuals with NMDAR-related MCDs. Read More

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Congenital hyperinsulinism in a newborn presenting with poor feeding.

SAGE Open Med Case Rep 2022 28;10:2050313X221083174. Epub 2022 Mar 28.

Department of Pediatric Endocrinology, Cedars-Sinai Medical Center, Beverly Hills, CA, USA.

Hyperinsulinemic hypoglycemia is a condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion. In infants, an inappropriately persistent hypoglycemic and hypoketotic state can cause severe brain injury leading to epilepsy, cerebral palsy, and neurodevelopmental disabilities due to the lack of glucose and ketone substrate to serve as fuel for the developing brain. The most common cause of persistent hypoglycemia in neonates and children has been found to be congenital hyperinsulinism. Read More

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Sex differences in neurology: a scoping review protocol.

BMJ Open 2022 04 1;12(4):e054513. Epub 2022 Apr 1.

Division of Neurology, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Introduction: Sex and gender are independently important in health and disease but have been incompletely explored in neurology. This is in part contributed to by the pre-existing male bias in scientific literature that results in fewer females being included in clinical research and the often interchangeable use of sex and gender in the literature. This scoping review intends to identify the advances as well as under-explored aspects of this field to provide a road map for future research. Read More

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Seizure Outcomes After Interventional Treatment in Cerebral Arteriovenous Malformation-Associated Epilepsy: A Systematic Review and Meta-Analysis.

World Neurosurg 2022 Apr;160:e9-e22

Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

Background: Seizures are the second most common presenting symptom of cerebral arteriovenous malformations (AVMs). Evidence supporting different treatment modalities is continuously evolving and it remains unclear which modality offers better seizure outcomes.

Objective: To compare various interventional treatment modalities (i. Read More

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Efficacy and safety of cannabidivarin treatment of epilepsy in girls with Rett syndrome: A phase 1 clinical trial.

Epilepsia 2022 Apr 1. Epub 2022 Apr 1.

Department of Neurology, Sydney Children's Hospital Randwick, Sydney, New South Wales, Australia.

Objective: Rett syndrome (RTT), commonly caused by methyl-CpG-binding protein 2 (MECP2) pathogenic variants, has many comorbidities. Fifty to ninety percent of children with RTT have epilepsy, which is often drug-resistant. Cannabidivarin (CBDV), a non-hallucinogenic phytocannabinoid, has shown benefit in MECP2 animal models. Read More

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Inflammation and Brain Structure in Schizophrenia and Other Neuropsychiatric Disorders: A Mendelian Randomization Study.

JAMA Psychiatry 2022 05;79(5):498-507

Institute for Mental Health, University of Birmingham, Birmingham, United Kingdom.

Importance: Previous in vitro and postmortem research suggests that inflammation may lead to structural brain changes via activation of microglia and/or astrocytic dysfunction in a range of neuropsychiatric disorders.

Objective: To investigate the relationship between inflammation and changes in brain structures in vivo and to explore a transcriptome-driven functional basis with relevance to mental illness.

Design, Setting, And Participants: This study used multistage linked analyses, including mendelian randomization (MR), gene expression correlation, and connectivity analyses. Read More

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ABCG2, SCN1A and CYP3A5 genes polymorphism and drug-resistant epilepsy in children: A case-control study.

Seizure 2022 Apr 12;97:58-62. Epub 2022 Mar 12.

Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran. Electronic address:

Purpose: Drug Resistant -Epilepsy is still a major challenge in pharmacotherapy of epilepsy. Pharmacogenetic pathways are one of the most important elements that can help clinicians determine medication response and provide more efficient drug therapy, especially in cases of drug resistance. Genetic alterations in drug target and transporter proteins, in part, could explain the development of drug-resistant epilepsy. Read More

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Broadband-NIRS System Identifies Epileptic Focus in a Child with Focal Cortical Dysplasia-A Case Study.

Metabolites 2022 Mar 17;12(3). Epub 2022 Mar 17.

Medical Physics and Biomedical Engineering, University College London, London WC1E 6BT, UK.

Epileptic seizures are transiently occurring symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Previous functional near-infrared spectroscopy (fNIRS) studies during seizures have focused in only monitoring the brain oxygenation and haemodynamic changes. However, few tools are available to measure actual cellular metabolism during seizures, especially at the bedside. Read More

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Neurodevelopmental disorders and somatic diagnoses in a national cohort of children born before 24 weeks of gestation.

Acta Paediatr 2022 Jun 22;111(6):1167-1175. Epub 2022 Mar 22.

The Sahlgrenska Centre for Pediatric Ophthalmology Research, Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Aim: This study investigated childhood diagnoses in children born extremely preterm before 24 weeks of gestation.

Methods: Diagnoses of neurodevelopmental disorders and selected somatic diagnoses were retrospectively retrieved from national Swedish registries for children born before 24 weeks from 2007 to 2018. Their individual medical files were also examined. Read More

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