6,254 results match your criteria Psychiatric Disorders Associated With Epilepsy

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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Updated Review on the Diagnosis and Primary Management of Psychogenic Nonepileptic Seizure Disorders.

Neuropsychiatr Dis Treat 2021 4;17:1825-1838. Epub 2021 Jun 4.

Buenos Aires University, Ramos Mejía Hospital, Epilepsy Center, Buenos Aires, Argentina.

Psychogenic nonepileptic seizures (PNES) are paroxystic and episodic events associated with motor, sensory, mental or autonomic manifestations, which resemble epileptic seizures (ES), but are not caused by epileptogenic activity. PNES affect between 20% and 30% of patients attending at epilepsy centers and constitute a serious mental health problem. PNES are often underdiagnosed, undertreated and mistaken with epilepsy. Read More

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Neuroendoscopic treatment of symptomatic cyst of the septum pellucidum in children: A case series.

Clin Neurol Neurosurg 2021 May 8;207:106671. Epub 2021 May 8.

Pediatric Neurosurgery Santobono-Pausilipon Children's Hospital, Naples, Italy.

Background: Symptomatic cysts of the septum pellucidum (CSP) are extremely rare in children and surgical indications are not well defined. A very careful clinical and neuroradiologic evaluation is necessary to consider a patient for surgical indication.

Methods: We present a surgical series of 7 pediatric patients. Read More

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CK syndrome: a rare cause of developmental delay in a young boy.

Clin Dysmorphol 2021 Jun 3. Epub 2021 Jun 3.

Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India.

CK syndrome is a rare disorder caused by mutation in the NSDHL (NAD(P) dependent steroid dehydrogenase-like) gene at the Xq28 locus. It has expanded the spectrum of disorders associated with X-linked mental retardation and defects in sterol metabolism. There are only a few reports defining the phenotypic spectrum of this rare disorder. 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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A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report.

BMC Pediatr 2021 06 1;21(1):256. Epub 2021 Jun 1.

Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.

Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. Mutations in TRPM3 were identified as the cause of DEE. We report a novel patient with DEE carrying a de novo missense mutation in TRPM3, p. Read More

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Visual surround suppression in people with epilepsy correlates with attentional-executive functioning, but not with epilepsy or seizure types.

Epilepsy Behav 2021 May 29;121(Pt A):108080. Epub 2021 May 29.

Department of Epileptology, University Hospital Bonn, Venusberg-Campus 1, 53127 Bonn, Germany.

Purpose: Following reports that an index of visual surround suppression (SI) may serve as a biomarker for an imbalance of cortical excitation and inhibition in different psychiatric and neurological disorders including epilepsy, we evaluated whether SI is associated with seizure susceptibility, seizure spread, and inhibitory effects of antiseizure medication (ASM).

Methods: In this prospective controlled study, we examined SI with a motion discrimination task in people with genetic generalized epilepsy (GGE) and focal epilepsy with and without focal to bilateral tonic-clonic seizures. Cofactors such as GABAergic ASM, attentional-executive functioning, and depression were taken into account. Read More

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Brain dysfunction and thyroid antibodies: autoimmune diagnosis and misdiagnosis.

Brain Commun 2021 5;3(2):fcaa233. Epub 2021 Jan 5.

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

Hashimoto encephalopathy, also known as steroid-responsive encephalopathy associated with autoimmune thyroiditis, has been defined by sub-acute onset encephalopathy, with elevated thyroid antibodies, and immunotherapy responsiveness, in the absence of specific neural autoantibodies. We aimed to retrospectively review 144 cases referred with suspected Hashimoto encephalopathy over a 13-year period, and to determine the clinical utility of thyroid antibodies in the course of evaluation of those patients. One hundred and forty-four patients (all thyroid antibody positive) were included; 72% were women. Read More

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January 2021

Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome.

BMC Neurol 2021 May 31;21(1):213. Epub 2021 May 31.

Department of Radiology, Shenzhen Kangning Hospital, Shenzhen Mental Health Center, 518020, Shenzhen, Guangdong, China.

Background: DDMS is a rare disease diagnosed by clinical and radiological characteristics. But the complexity of radiological and clinical manifestations of DDMS has become a challenge diagnostically. To date, the reported cases with DDMS had highly varied clinical manifestations including seizures, contralateral hemiplegia/hemiparesis, facial asymmetry, mental retardation, etc. Read More

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Social phobia and its relationship with perceived epilepsy-associated stigma IN patients with epilepsy.

Epilepsy Behav 2021 May 27;121(Pt A):108060. Epub 2021 May 27.

Department of Neurology, University of Ministry Health, Gaziosmanpasa Training and Research Hospital, Istanbul, Turkey.

Patients with epilepsy (PWE) might feel stigmatized due to the likelihood of having uncontrollable seizures and the possibility of their sudden occurrence in the community, which may lead to increased rates of social phobia in these patients. People with social phobia interpret others' attitudes toward them negatively and hence feel stigmatized. This vicious circle may be applied to PWE, reduces the quality of life and might cause them more challenging psychosocial problems than seizure management. Read More

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Forced normalization of Lennox-Gastaut syndrome using lacosamide: A case report.

Brain Dev 2021 May 25. Epub 2021 May 25.

Department of Pediatrics, Jichi Medical University, Tochigi, Japan.

Purpose: Forced normalization (FN) indicates psychotic episodes associated with seizure remission and disappearance of epileptiform activity on EEG. FN is likely to occur when frequent seizures are abruptly terminated by anti-epileptic drugs (AEDs) or epilepsy surgery.

Methods: We describe an atypical case of a patient with FN induced by lacosamide (LCM). Read More

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Relationships among illness representations and depressive symptom severity in predominantly African-American and Caribbean-American people with epilepsy.

Clin Neuropsychol 2021 May 22:1-17. Epub 2021 May 22.

Downstate Medical Center, State University of New York, New York, NY, USA.

Depression is the most common psychiatric comorbidity among people with epilepsy (PWE) and tends to be more prevalent among people of color (POC) and those with intractable seizures. However, the extent to which illness-related perceptions are associated with depressive symptom severity among POC with intractable seizures is unclear. This cross-sectional study examined relationships among illness representations and self-rated depressive symptoms in 55 PWE ( Age = 41; 61. Read More

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Potassium channels and autism spectrum disorder-an overview.

Int J Dev Neurosci 2021 May 18. Epub 2021 May 18.

Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.

Autism spectrum disorder(ASD) comprises a group of neurodevelopmental disorders characterized by impaired social interaction and communication, and restricted, repetitive patterns of behaviors, interests, or activities. It had been demonstrated that potassium channels played a key role in regulating neuronal excitability,which was closely associated with neurological diseases including epilepsy, ataxia, myoclonus and psychiatric disorders. In recent years, a growing body of evidence from whole genome sequencing and whole exome sequencing had identified several ASD susceptibility genes of potassium channels in ASD subjects. Read More

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Valproic acid-induced encephalopathy: A review of clinical features, risk factors, diagnosis, and treatment.

Epilepsy Behav 2021 Jul 15;120:107967. Epub 2021 May 15.

Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing, China. Electronic address:

Valproic acid (VPA), or sodium valproate, is a commonly used medication for seizure disorders, migraines, and mental illness. Although VPA is relatively safe, it still has several adverse effects; among these, VPA-induced encephalopathy is the most serious. Valproic acid-induced encephalopathy mainly manifests as acute or subacute encephalopathy and has been associated with hyperammonemia, L-carnitine deficiency, and urea cycle enzyme dysfunction. Read More

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Temporal Lobectomy: Does It Worsen or Improve Presurgical Psychiatric Disorders?

Luis Pintor

Curr Top Behav Neurosci 2021 May 7. Epub 2021 May 7.

University of Barcelona, Barcelona, Spain.

Temporal lobe epilepsy (TLE) is the type of epilepsy most frequently associated with psychiatric morbidity. Respective surgery for focal epilepsy remains the preferred treatment for medically resistant epilepsy. The aim of this chapter is to review what happens with psychiatric disorders once patients have undergone surgery. Read More

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Neurocognitive Effects of Antiseizure Medications in Children and Adolescents with Epilepsy.

Paediatr Drugs 2021 May 6;23(3):253-286. Epub 2021 May 6.

University College London, London, UK.

Impairments in cognition are common in epilepsy and may be caused or exacerbated by antiseizure medications (ASMs). Positive effects on cognition may also be seen with some ASMs. Cognitive outcomes are of particular concern in children who may be at an increased risk of cognitive adverse effects of treatment. Read More

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Neurologic Complications of Poverty: the Associations Between Poverty as a Social Determinant of Health and Adverse Neurologic Outcomes.

Curr Neurol Neurosci Rep 2021 05 5;21(7):29. Epub 2021 May 5.

University of Notre Dame, Chicago, IL, USA.

Purpose Of Review: Increasing attention has been paid in recent decades to social determinants of health as a risk factor for disease development and disease severity. While traditionally heart disease, family history, lipid profile, and tobacco use have all been associated with increased risk of neurological disease, numerous studies now show that the influence of poverty may be just as strong a risk factor. This study summarizes the recent literature on poverty as it contributes to neurological disease. Read More

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Hum Genet 2021 Jul 4;140(7):1109-1120. Epub 2021 May 4.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

Located in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding protein 5 (CHD5) gene encodes a subunit of the nucleosome remodeling and deacetylation (NuRD) complex required for neuronal development. Pathogenic variants in six of nine chromodomain (CHD) genes cause autosomal dominant neurodevelopmental disorders, while CHD5-related disorders are still unknown. Thanks to GeneMatcher and international collaborations, we assembled a cohort of 16 unrelated individuals harboring heterozygous CHD5 variants, all identified by exome sequencing. Read More

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Association between epilepsy and psychiatric disorders in adults with intellectual disabilities: systematic review and meta-analysis.

BJPsych Open 2021 May 3;7(3):e95. Epub 2021 May 3.

Division of Psychiatry, Department of Brain Sciences, Faculty of Medicine, Imperial College London, UK.

Background: Psychiatric disorders, such as depression and anxiety, are commonly associated with epilepsy in the general population, but the relationship between psychiatric disorders and epilepsy among adults with intellectual disabilities is unclear.

Aims: To conduct a systematic review and meta-analysis to assess whether epilepsy is associated with an increased rate of psychiatric disorders in adults with intellectual disabilities.

Method: We included literature published between 1985 and 2020 from four databases, and hand-searched six relevant journals. Read More

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Optimized Parameters for Transducing the Locus Coeruleus Using Canine Adenovirus Type 2 (CAV2) Vector in Rats for Chemogenetic Modulation Research.

Front Neurosci 2021 13;15:663337. Epub 2021 Apr 13.

4BRAIN, Institute for Neuroscience, Department Head and Skin, Ghent University, Ghent, Belgium.

Introduction: The locus coeruleus noradrenergic (LC-NA) system is studied for its role in various neurological and psychiatric disorders such as epilepsy and Major Depression Dissorder. Chemogenetics is a powerful technique for specific manipulation of the LC to investigate its functioning. Local injection of AAV2/7 viral vectors has limitations with regards to efficiency and specificity of the transduction, potentially due to low tropism of AAV2/7 for LC neurons. Read More

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How Does the Cause of Infantile Hemiparesis Influence Other Conditioning Factors? A Preliminary Study in a Spanish Population.

Children (Basel) 2021 Apr 22;8(5). Epub 2021 Apr 22.

Department of Physiotherapy, Faculty of Nursery, Physiotherapy and Podiatry, University of Seville, 41009 Seville, Spain.

Infantile hemiparesis may be associated with significant morbidity and may have a profound impact on a child's physical and social development. Infantile hemiparesis is associated with motor dysfunction as well as additional neurologic impairments, including sensory loss, mental retardation, epilepsy, and vision, hearing, or speech impairments. The objective of this study was to analyze the association between the cause of infantile hemiparesis and birth (gestational age), age of diagnosis, and associated disorders present in children with infantile hemiparesis aged 0 to 3 years. Read More

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Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.

Neurol Genet 2021 Apr 18;7(2):e579. Epub 2021 Mar 18.

Research Institute of the McGill University Health Centre (K.M.), Montreal, PQ; Division of Child Neurology (K.M.), Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, PQ; Department of Neurology & Neurosurgery (K.M.), Montreal Children's Hospital, McGill University, Montreal, PQ; Child Neurology and Psychiatry (C.M.), Salesi Pediatric Hospital, United Hospitals of Ancona, Ancona, Italy; Division of Genetic Medicine (G.L.C., J.N., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Department of Neurology (A.M.), Great Ormond Street Hospital for Children, London, UK; Developmental Neurosciences Programme (A.M.), UCL Great Ormond Street Institute of Child Health, London, UK; Neurology Network Melbourne (J.P.), Melbourne, Victoria, Australia; Murdoch Children's Research Institute (C.S., I.E.S.), Parkville, Victoria, Australia; Department of Paediatrics and Child Health (T.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Division of Neurology (S.M.), Department of Pediatrics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada; Neurology Unit and Neurogenetic Laboratories (C.B., A.R., R.G.), Meyer Children's Hospital, Florence, Italy; Department of Clinical Genetics (R.H.S.), Great Ormond Street Hospital, London, UK; Epilepsy Research Centre (I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics (I.E.S.), Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia; and The Florey Institute of Neuroscience and Mental Health (I.E.S.), Heidelberg, Victoria, Australia.

Objective: To describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and microcephaly, sleep disturbance, and ataxia.

Methods: We performed phenotyping on patients with deletions, duplications, or point mutations and a history of seizures.

Results: Twenty-three patients with MAND and seizures were included. Read More

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Does modern research validate the ancient wisdom of gut flora and brain connection? A literature review of gut dysbiosis in neurological and neurosurgical disorders over the last decade.

Neurosurg Rev 2021 Apr 26. Epub 2021 Apr 26.

Department of Surgical Gastroenterology, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, 249203, India.

The connection between gastrointestinal microbiota and the brain has been described in ancient medical texts and is now well established by research. It is a bidirectional communication which plays a critical role in regulating not only the gastrointestinal homeostasis but has also been linked to higher emotional and cognitive functions. Recent studies have sought to expand on this concept by providing concrete evidence of the influence of gut microbiome on a wide array of diseases and disorders of the central nervous system. Read More

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Intellectual Disability in Morocco: A Pilot Study.

Innov Clin Neurosci 2020 Oct-Dec;17(10-12):9-13. Epub 2020 Oct 1.

Drs. Benmakhlouf, Zian, Ghailani Nourouti, Barakat, and Bennani Mechita are with Biomedical Genomics and Oncogenetics Research Laboratory, Faculty of Sciences and Techniques of Tangier, at Abdelmalek Essaadi University, Morocco, in Tétouan, Morocco.

Intellectual disability (ID) is a heterogeneous group of disorders characterized by a congenital limitation in intellectual functioning and adaptive behaviour. Our present work aimed to describe the demographic and clinical characteristics in a series of Moroccan individuals with ID living in Fez city and its regions. It was a prospective and descriptive exploratory monocentric study carried out between October 2014 and July 2019. Read More

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October 2020

Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy.

Mol Psychiatry 2021 Apr 22. Epub 2021 Apr 22.

Department of Pediatrics, University of California San Diego, La Jolla, CA, USA.

Early-onset epileptic encephalopathies are severe disorders often associated with specific genetic mutations. In this context, the CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by early-onset seizures, intellectual delay, and motor dysfunction. Although crucial for proper brain development, the precise targets of CDKL5 and its relation to patients' symptoms are still unknown. Read More

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Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric case-control study.

Orphanet J Rare Dis 2021 Apr 17;16(1):181. Epub 2021 Apr 17.

Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, No. 399 Wanyuan Road, Minhang District, Shanghai, 201102, China.

Background: The tuberous sclerosis-associated neuropsychiatric disorders (TAND) have not previously been studied in China. We aimed to assess the psychiatric level of individuals with TAND using the Mini International Neuropsychiatric Interview for Children (MINI-KID) in China.

Results: A total of 83. Read More

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mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus.

J Neurodev Disord 2021 Apr 17;13(1):14. Epub 2021 Apr 17.

Department of Child and Adolescent Psychiatry, University Hospital and Medical Faculty Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.

Background: Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum disorder (ASD), is caused by mutations of TSC1 or TSC2, which lead to constitutive overactivation of mammalian target of rapamycin (mTOR). In several Tsc1+/- and Tsc2+/- animal models, cognitive and social behavior deficits were reversed by mTOR inhibitors. However, phase II studies have not shown amelioration of ASD and cognitive deficits in individuals with TSC during mTOR inhibitor therapy. Read More

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Long-term epilepsy control, motor function, cognition, sleep and quality of life in children with West syndrome.

Epilepsy Res 2021 Jul 2;173:106629. Epub 2021 Apr 2.

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India. Electronic address:

Purpose: To assess epilepsy, motor function, cognitive, sleep, and quality of life outcomes and their predictors in a follow-up cohort with West syndrome (WS) at ≥5 years of age.

Methods: Cross-sectional evaluation in a follow-up cohort of WS (aged 5-14 years), between July 2018 and December 2019, was performed at a tertiary-care referral center in Northern India. 164 children were assessed in-person for epilepsy severity, functional status (gross motor and hand function), social quotient, behavioral comorbidities, sleep problems, and quality of life (QoL) using Early Childhood Epilepsy Severity Scale, Gross Motor Function Classification System, Manual Ability Classification System, Vineland Social Maturity Scale, Diagnostic and Statistical Manual of Mental disorders-5 criteria, Children's Sleep Habits Questionnaire, and PedsQL-Epilepsy module respectively. Read More

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