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Child epilepsy

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https://www.readbyqxmd.com/read/27900360/scn8a-mutation-in-a-child-presenting-with-seizures-and-developmental-delays
#1
Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H Meisler, Kai Wang, Reid Robison, Gholson J Lyon
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#2
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#3
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
November 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27878438/interdependence-of-clinical-factors-predicting-cognition-in-children-with-tuberous-sclerosis-complex
#4
I E Overwater, B J H Verhaar, H F Lingsma, G C B Bindels-de Heus, A M W van den Ouweland, M Nellist, L W Ten Hoopen, Y Elgersma, H A Moll, M C Y de Wit
Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and to support development. The aim of this study was to confirm factors that have been reported to be independently correlated with cognitive development. 102 patients included in this study were treated at the ENCORE-TSC expertise center of the Erasmus Medical Center-Sophia Children's Hospital. Data from the first 24 months of life were used, including details on epilepsy, motor development and mutation status...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27875769/status-epilepticus-in-pregnant-women-with-epilepsy-after-valproate-adjustment-a-case-series
#5
Mengqian Wu, Nanya Hao, Bo Yan, Xiaosa Chi, Dong Zhou
PURPOSE: Valproate is an effective wide-spectrum anti-epileptic drug that is also known to be teratogenic. Its administration in epileptic women remains controversial. This report aims to draw more attention to valproate adjustment before and during pregnancy. METHODS: We collected medical records of pregnant women with epilepsy at West China Hospital in Chengdu, China who developed status epilepticus during pregnancy after valproate withdrawal or reduction in dose from January 2013 to July 2015...
November 14, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#6
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
October 18, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27857813/anesthetic-management-of-a-child-with-lennox-gastaut-syndrome-with-intractable-epilepsy-posted-for-intracranial-surgery
#7
Indu Kapoor, Girija Prasad Rath
No abstract text is available yet for this article.
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27856333/novel-homozygous-missense-mutation-in-aldh7a1-causes-neonatal-pyridoxine-dependent-epilepsy
#8
Emanuele G Coci, Luca Codutti, Christian Fink, Sophie Bartsch, Gunnar Grüning, Thomas Lücke, Ingo Kurth, Joachim Riedel
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ(1)-piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5'-phosphate (PLP), the active form of pyridoxine...
November 14, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27852030/-a-case-of-pol-iii-related-leukodystrophy-with-homozygous-mutation-in-polr3a
#9
Tomoaki Shima, Takeshi Fujimoto, Teiichiro Miyazaki, Fumiaki Nonaka
We describe a 27-year-old man with mental retardation, symptomatic epilepsy, myopia, and cerebellar ataxia without spontaneous puberty whose brain magnetic resonance imaging showed hypomyelination. He had child-like facial appearance, with thin facial hair. He had no underarm and pubic hairs, and his penis was small. Laboratory tests showed low levels of luteinizing hormone, follicle-stimulating hormone, and testosterone. Brain MRI showed diffuse hypomyelination, atrophy of the cerebellum and brainstem, and hypoplastic corpus callosum...
November 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27824801/parent-perceptions-of-family-social-supports-in-families-with-children-with-epilepsy
#10
Kim A Decker, Wendy R Miller, Janice M Buelow
PURPOSE AND BACKGROUND: When a child is diagnosed with epilepsy, not only has the child's life been disrupted but also the family's sense of normalcy. Although there is considerable literature discussing family concerns and social support issues in families with chronically ill children, a major gap lies in the exploration of how the specifics of childhood epilepsy affect parents and family operations. The purpose of this study was to identify psychosocial care needs of parents of children with epilepsy...
December 2016: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
https://www.readbyqxmd.com/read/27819746/monotherapy-treatment-of-epilepsy-in-pregnancy-congenital-malformation-outcomes-in-the-child
#11
REVIEW
Jennifer Weston, Rebecca Bromley, Cerian F Jackson, Naghme Adab, Jill Clayton-Smith, Janette Greenhalgh, Juliet Hounsome, Andrew J McKay, Catrin Tudur Smith, Anthony G Marson
BACKGROUND: There is evidence that certain antiepileptic drugs (AEDs) are teratogenic and are associated with an increased risk of congenital malformation. The majority of women with epilepsy continue taking AEDs throughout pregnancy; therefore it is important that comprehensive information on the potential risks associated with AED treatment is available. OBJECTIVES: To assess the effects of prenatal exposure to AEDs on the prevalence of congenital malformations in the child...
November 7, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27806796/-dynamin-1-related-infantile-spasms-a-case-report-and-review-of-literature
#12
X L Deng, F Yin, C L Zhang, Y P Ma, F He, L W Wu, J Peng
Objective: To analyze the clinical and gene mutation characteristics of dynamin-1 (DNM1)-related infantile spasms. Method: Clinical, laboratory and genetic data of one case of DNM1-related infantile spasms diagnosed by Xiangya Hospital in September 2015 were analyzed.Through taking "Dynamin-1" "DNM1" as key words to search at CNKI, Wanfang, PubMed and OMIM to date (April 2016), the clinical characteristics of 9 reported cases of DNM1-related epileptic encephalopathy in international literature with our case were reviewed...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27779314/co-sleeping-in-school-aged-children-with-a-motor-disability-a-comparative-population-based-study
#13
David Jacquier, Christopher John Newman
AIM: To determine the prevalence and determinants of co-sleeping in school-aged children with a motor disability compared with the school-aged general population. METHOD: A questionnaire on demographic characteristics and co-sleeping habits, along with the Sleep Disturbance Scale for Children (SDSC), was sent to parents of children aged between 4 years and 18 years followed in our tertiary paediatric neurorehabilitation clinic, and to school-aged children in a representative sample of state schools...
October 25, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27770579/febrile-infection-related-epilepsy-syndrome-treated-with-anakinra
#14
Daniel L Kenney-Jung, Annamaria Vezzani, Robert J Kahoud, Reghann G LaFrance-Corey, Mai-Lan Ho, Theresa Wampler Muskardin, Elaine C Wirrell, Charles L Howe, Eric T Payne
Febrile infection-related epilepsy syndrome (FIRES) is a devastating epileptic encephalopathy with limited treatment options and an unclear etiology. Anakinra is a recombinant version of the human interleukin-1 receptor antagonist used to treat autoinflammatory disorders. This is the first report of anakinra for treatment of a child with super-refractory status epilepticus secondary to FIRES. Anakinra was well tolerated and effective. Cerebral spinal fluid analysis revealed elevated levels of proinflammatory cytokines before treatment that normalized on anakinra, suggesting a potential pathogenic role for neuroinflammation in FIRES...
October 22, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27752862/brief-report-prevalence-of-co-occurring-epilepsy-and-autism-spectrum-disorder-the-u-s-national-survey-of-children-s-health-2011-2012
#15
Shiny Thomas, Mary E Hovinga, Dheeraj Rai, Brian K Lee
Epilepsy is reported to co-occur in individuals with autism spectrum disorder (ASD). Previous studies across the world have found prevalence estimates ranging from 4 to 38 %. We examined parent-reported prevalence of co-occurring epilepsy and ASD in the most recent U.S. National Survey of Children's Health, 2011-2012. All analyses accounted for survey weights to account for the complex sampling design. In the overall analytic sample of 85,248 children ages 2-17, there were 1604 children with ASD (prevalence of 1...
October 17, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27744243/the-efficacy-of-an-educational-program-for-parents-of-children-with-epilepsy-famoses-results-of-a-controlled-multicenter-evaluation-study
#16
Anne Hagemann, Margarete Pfäfflin, Fridtjof W Nussbeck, Theodor W May
OBJECTIVE: The objective of this study was to evaluate the efficacy of the educational program FAMOSES (modular service package epilepsy for families) for parents of children with epilepsy. METHOD: Parents of children with epilepsy from Germany and Austria were included in a controlled prospective multicenter study using a pre-post design. Participants of the FAMOSES program (FAMOSES group, n=148) completed a standardized questionnaire immediately before the program and six months later...
October 13, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27739581/identification-of-risk-for-severe-psychiatric-comorbidity-in-pediatric-epilepsy
#17
Jana E Jones, Prabha Siddarth, Dace Almane, Suresh Gurbani, Bruce P Hermann, Rochelle Caplan
OBJECTIVE: This study identified items on the Child Behavior Checklist (CBCL) that predict those children and adolescents with epilepsy at highest risk for multiple psychiatric diagnoses. METHODS: Three hundred twenty-eight children, ages 5-18 years, and their parents participated in separate structured psychiatric interviews about the children, which yielded Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Text Revision (DSM-IV-TR) diagnoses...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27735055/overweight-in-epilepsy-as-a-risk-factor-for-pregnancy-and-delivery-complications
#18
Eivind Kolstad, Gyri Veiby, Nils Erik Gilhus, Marte Bjørk
OBJECTIVE: To investigate whether prepregnancy overweight in women with epilepsy increases their risk for complications during pregnancy and delivery. METHODS: This study is based on The Norwegian Mother and Child Cohort Study (MoBa) linked to the Medical Birth Registry of Norway. A diagnosis of epilepsy was reported in 706 pregnancies. Overweight was defined as body mass index ≥ 25 prepregnancy. Overweight women with epilepsy (n = 259) were compared to normal-weight women with epilepsy (n = 416), and to women without epilepsy with and without overweight (n = 30,516 and n = 67,977, respectively)...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27703369/multidisciplinary-rehabilitation-for-patients-with-cerebral-palsy-improving-long-term-care
#19
Antonio Trabacca, Teresa Vespino, Antonella Di Liddo, Luigi Russo
Cerebral palsy (CP) is one of the most frequent causes of child disability in developed countries. Children with CP need lifelong assistance and care. The current prevalence of CP in industrialized countries ranges from 1.5 to 2.5 per 1,000 live births, with one new case every 500 live births. Children with CP have an almost normal life expectancy and mortality is very low. Despite the low mortality rate, 5%-10% of them die during childhood, especially when the severe motor disability is comorbid with epilepsy and severe intellectual disability...
2016: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/27697326/behavioral-problems-and-childhood-epilepsy-parent-vs-child-perspectives
#20
Soyong Eom, Rochelle Caplan, Anne T Berg
OBJECTIVE: To test whether the reported association between pediatric epilepsy and behavioral problems may be distorted by the use of parental proxy report instruments. STUDY DESIGN: Children in the Connecticut Study of Epilepsy were assessed 8-9 years after their epilepsy diagnosis (time-1) with the parent-proxy Child Behavior Check List (CBCL) (ages 6-18 years) or the Young Adult Self-Report (≥18 years of age). For children <18 years of age, parents also completed the Child Health Questionnaire, which contains scales for impact of child's illness on the parents...
September 30, 2016: Journal of Pediatrics
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