Read by QxMD icon Read

epilepsy syndrome

Mariana Alves, Edward Beamer, Tobias Engel
Epilepsy encompasses a heterogeneous group of neurological syndromes which are characterized by recurrent seizures affecting over 60 million people worldwide. Current anti-epileptic drugs (AEDs) are mainly designed to target ion channels and/or GABA or glutamate receptors. Despite recent advances in drug development, however, pharmacoresistance in epilepsy remains as high as 30%, suggesting the need for the development of new AEDs with a non-classical mechanism of action. Neuroinflammation is increasingly recognized as one of the key players in seizure generation and in the maintenance of the epileptic phenotype...
2018: Frontiers in Pharmacology
Robert S Fisher, Anna M Bonner
The definition of who has epilepsy, classification of seizure types, and types of epilepsy have all recently been revised. The classical definition of epilepsy as a person having two or more unprovoked seizures more than 24 hours apart has been expanded also to include those with one seizure and a high likelihood (more than 60%) of having another. In the new definition, epilepsy is considered to be resolved when a person is seizure-free for 10 years, the terminal 5 being off seizure medicines, or when an age-dependent syndrome has been outgrown...
2018: Neurodiagnostic Journal
Lanlan Zhang, Chengzhong Wang, Wei Li
Objective: To evaluate clinical efficacy, safety, and tolerability of levetiracetam as mono- or adjunctive therapy in the treatment of children and adolescents with epilepsy. Materials and methods: We performed a meta-analysis of randomized controlled trials published from January 2007 to December 2016 in the databases Web of Science, Medline, Embase, Cochrane Library, and PubMed, Bing, Baidu, Google Scholar, Chinese National Knowledge Infrastructure (CNKI), and Wanfang Data...
2018: Neuropsychiatric Disease and Treatment
Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi, Wei-Ping Liao
BACKGROUND: Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15-35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are two typical forms of intractable epileptic encephalopathy associated with ID. We previously reported that ASD was diagnosed in 24.3% of patients with DS, higher in those with profound ID. Given the severe epilepsy and high frequency of ID in LGS, it is necessary to know whether ASD is a common psychomotor co-morbidity of LGS...
March 20, 2018: Journal of Neurodevelopmental Disorders
Pablo Roa Rojas, Hernán Arango Fernández, Martha Rebolledo Cobos, Jonathan Harris Ricardo
Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia...
April 1, 2018: Archivos Argentinos de Pediatría
Bo Geum Choi, Su Kyung Hwang, Jung Eun Kwon, Yeo Hyang Kim
BACKGROUND AND OBJECTIVES: The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD). METHODS: Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled...
March 2018: Korean Circulation Journal
Fiona M Baumer, Brenda E Porter
BACKGROUND: Sunflower Syndrome describes reflex seizures - typically eyelid myoclonia with or without absence seizures - triggered when patients wave their hands in front of the sun. While valproate has been recognized as the best treatment for photosensitive epilepsy, many clinicians now initially treat with newer medications; the efficacy of these medications in Sunflower Syndrome has not been investigated. We reviewed all cases of Sunflower Syndrome seen at our institution over 15 years to describe the clinical course, electroencephalogram (EEG), and treatment response in these patients...
March 3, 2018: Epilepsy Research
Sarah F Pollack, Olivia R Grocott, Kimberly A Parkin, Anna M Larson, Ronald L Thibert
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures are often the first seizure type to appear, and myoclonic status, associated with developmental regression, may occur in the first few years of life. Additionally, there have been rare reports of prolonged episodes of myoclonus without electrographic correlate in adults with AS...
March 16, 2018: Epilepsy & Behavior: E&B
Islam Hassan, Tiffany Townsend, Jing Ee Tan, Chantelle Hrazdil
No abstract text is available yet for this article.
March 1, 2018: Australian and New Zealand Journal of Psychiatry
Rodrigo Vargas, Lucas Beltrán, Rafael Lizama, Gabriela Reyes Valenzuela, Roberto Caraballo
PURPOSE: To present a retrospective study of 13 children with benign epilepsy with centrotemporal spikes (BECTS), also known as benign rolandic epilepsy (BRE), associated with generalized spikes and waves as the only EEG manifestation at onset. METHOD: Charts of children with typical clinical criteria of BRE electroclinically followed-up between February 2000 and February 2015 were reviewed. RESULTS: Among 309 patients who met the electroclinical criteria of BRE, we identified 13 children who presented with the typical clinical manifestations but who, on the EEG, only had generalized paroxysms at onset that continued along the course of the syndrome...
March 9, 2018: Seizure: the Journal of the British Epilepsy Association
Vedavathi Kunnanayaka, Puneet Jain, Suvasini Sharma, Anju Seth, Satinder Aneja
Background: West syndrome is a catastrophic epilepsy syndrome characterized by infantile spasms, hypsarrhythmia, and developmental arrest or regression. Aim: The aim of this study was to explore the role of pyridoxine in the management of infantile spasms. Setting and Design: This was a pilot, randomized, open-label trial conducted at a tertiary level hospital from November 2012 to March 2014. Materials and Methods: Children aged 3 months to 3 years presenting with infantile spasms in clusters (at least 1 cluster/day) with hypsarrhythmia or its variants on electroencephalogram (EEG) were enrolled...
March 2018: Neurology India
Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age...
March 12, 2018: Brain & Development
Piero Perucca, Ingrid E Scheffer, Michelle Kiley
The International League Against Epilepsy has recently published a new classification of epileptic seizures and epilepsies to reflect the major scientific advances in our understanding of the epilepsies since the last formal classification 28 years ago. The classification emphasises the importance of aetiology, which allows the optimisation of management. Antiepileptic drugs (AEDs) are the main approach to epilepsy treatment and achieve seizure freedom in about two-thirds of patients. More than 15 second generation AEDs have been introduced since the 1990s, expanding opportunities to tailor treatment for each patient...
March 19, 2018: Medical Journal of Australia
Adam H Lewis, Ankur Chugh, Sarah A Sobotka
A 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development. Evaluation by the Developmental and Behavioral and Gastroenterology teams revealed failure to thrive (FTT) as the primary cause of the behavioral outbursts and developed a high-calorie, high-fat, high-protein nutritional counseling plan. Children who have FTT and a genetic disorder are often thought to not thrive because of their underlying genetic disorder; however, feeding skills and nutritional intake need to be thoroughly investigated before determining an etiology for FTT...
March 1, 2018: Pediatric Annals
Elizabeth Hisle-Gorman, Apryl Susi, Theophil Stokes, Gregory Gorman, Christine Erdie-Lalena, Cade M Nylund
OBJECTIVE: We explored the association of 29 previously reported neonatal, perinatal and prenatal conditions and exposures with later diagnosis of ASD in a large sample of children followed over multiple years. STUDY DESIGN: A retrospective case-cohort study was formed using the Military Health System database. Cases were identified by International Classification of Diseases, Ninth Revision (ICD-9) codes for ASD between 2000 and 2013 and were matched 3:1 with controls on sex, date of birth, and enrollment time-frame...
March 14, 2018: Pediatric Research
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
March 13, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
Zeljka Petelin Gadze, Andreja Bujan Kovac, Ivan Adamec, Nina Milekic, Vlatko Sulentic
No abstract text is available yet for this article.
March 6, 2018: Seizure: the Journal of the British Epilepsy Association
John D Gilbert, Roger W Byard
Sotos syndrome is a rare congenital syndrome caused by deletions or mutations in the NSD1 gene (chromosome 5q35) which results in overgrowth. A wide range of manifestations may result in unexpected and/or early death, including congenital cardiac malformations and tumours, epilepsy, intra-tumoural haemorrhage or embolism and bleeding diatheses. A case of lethal pulmonary fat embolism complicating revision of a left total hip replacement following spontaneous fracture is reported in a 39-year-old man with Sotos syndrome...
January 1, 2018: Medicine, Science, and the Law
Tomoko Saikusa, Munetsugu Hara, Kazuhiro Iwama, Kotaro Yuge, Chihiro Ohba, Jun-Ichiro Okada, Tadashi Hisano, Yushiro Yamashita, Nobuhiko Okamoto, Hirotomo Saitsu, Naomichi Matsumoto, Toyojiro Matsuishi
We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G > T, p.Gly218Cys) was confirmed by whole exome sequencing and Sanger sequencing. X-chromosome inactivation analysis on DNA isolated from peripheral blood lymphocytes revealed a completely skewed pattern associated with an inactive maternal allele...
March 5, 2018: Brain & Development
Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, Russell P Saneto, Elaine C Wirrell, Jason Coryell, Catherine J Chu, John R Mytinger, William D Gaillard, Ignacio Valencia, Kelly G Knupp, Tobias Loddenkemper, Joseph E Sullivan, Annapurna Poduri, John J Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B Dobyns, Madhuri Hegde
Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical, etiological, and molecular-genetic factors preferentially predisposing to spasms. We compared ages, clinical etiologies, and associated-genes between spasms and non-spasms groups in a multicenter cohort of 509 infants (<12months) with newly-diagnosed epilepsy...
2018: PloS One
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"