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https://www.readbyqxmd.com/read/28715780/use-of-perampanel-in-children-and-adolescents-with-lennox-gastaut-syndrome
#1
Stéphane Auvin, Blandine Dozieres, Adina Ilea, Catherine Delanoë
AIM: Report the use of perampanel treatment in children with Lennox-Gastaut syndrome (LGS). METHOD: We conducted a prospective study of 13 LGS patients (seven male; mean age, 12.8years) treated with adjunctive perampanel therapy. Perampanel was initiated at 2mg/day and titrated to a median maximum dose of 6mg/day. RESULTS: After a mean follow-up duration of 10.8months (range, 1-24months), nine patients (69.2%) were responders (≥50% reduction in total seizure frequency) and nine (69...
July 14, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28689466/early-diagnosis-and-treatment-of-lennox-gastaut-syndrome
#2
Trevor Resnick, Raj D Sheth
Lennox-Gastaut syndrome (LGS) is a severe form of childhood-onset epilepsy associated with high morbidity and mortality. The peak period for manifestations of Lennox-Gastaut syndrome is between ages 3 and 5 years, a time of critical brain development and corresponding vulnerability to the electroclinical dysfunction arising from Lennox-Gastaut syndrome. Diagnosis is based on a triad of symptoms: multiple seizure types, cognitive impairment, and slow spike-and-wave pattern on electroencephalography. In practice, Lennox-Gastaut syndrome presentation is diverse, and there may be a delay between initial symptoms and emergence of the full triad of clinical features...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28667181/dnm1-encephalopathy-a-new-disease-of-vesicle-fission
#3
Sarah von Spiczak, Katherine L Helbig, Deepali N Shinde, Robert Huether, Manuela Pendziwiat, Charles Lourenço, Mark E Nunes, Dean P Sarco, Richard A Kaplan, Dennis J Dlugos, Heidi Kirsch, Anne Slavotinek, Maria R Cilio, Mackenzie C Cervenka, Julie S Cohen, Rebecca McClellan, Ali Fatemi, Amy Yuen, Yoshimi Sagawa, Rebecca Littlejohn, Scott D McLean, Laura Hernandez-Hernandez, Bridget Maher, Rikke S Møller, Elizabeth Palmer, John A Lawson, Colleen A Campbell, Charuta N Joshi, Diana L Kolbe, Georgie Hollingsworth, Bernd A Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E Scheffer, Sérgio D J Pena, Sanjay M Sisodiya, Ingo Helbig
OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function...
June 30, 2017: Neurology
https://www.readbyqxmd.com/read/28633092/epilepsy-in-neurofibromatosis-type-1
#4
Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, Mohamad A Mikati
OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28609734/assessment-of-treatment-patterns-and-healthcare-costs-associated-with-probable-lennox-gastaut-syndrome
#5
J Eric Piña-Garza, Georgia D Montouris, Francis Vekeman, Wendy Y Cheng, Edward Tuttle, Philippe Giguere-Duval, Mei Sheng Duh, Vivienne Shen, Timothy B Saurer, Jouko Isojarvi
Lennox-Gastaut syndrome (LGS) is a chronic and severe form of epilepsy characterized by intractable seizures, cognitive impairment, and abnormal electroencephalogram findings with slow spike-wave complexes. It typically presents before age 8, but symptoms continue into adulthood and require lifelong treatment associated with significant clinical burden. Data on LGS-associated healthcare utilization and costs are limited. In this study we use a claims-based LGS classifier based on random forest methodology to identify patients with probable LGS from the a Medicaid multi-state database and assess its prevalence across the age spectrum, healthcare utilization, treatment patterns, costs, and comorbid conditions...
June 10, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28602933/familial-epilepsy-with-anterior-polymicrogyria-as-a-presentation-of-col18a1-mutations
#6
Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renée Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz
Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made...
August 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28600632/dynamic-complexity-measures-and-entropy-paths-for-modelling-and-comparison-of-evolution-of-patients-with-drug-resistant-epileptic-encephalopathy-syndromes-drees
#7
Ricardo Zavala-Yoe, Ricardo A Ramirez-Mendoza
Epileptic encephalopathies (EE) is a term coined by the International League Against Epilepsy (ILAE) to refer to a group of epilepsies in which the ictal and interictal abnormalities may contribute to progressive cerebral dysfunction. Among them, two affect mainly children and are very difficult to deal with, Doose and Lennox-Gastaut syndromes, (DS and LGS, respectively). So far (Zavala-Yoe et al., J Integr Neurosci 15(2):205-223, 2015a and works of ours there), quantitative analysis of single case studies of EE have been performed...
June 9, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28589569/identification-of-novel-bcl11a-variants-in-patients-with-epileptic-encephalopathy-expanding-the-phenotypic-spectrum
#8
Michiko Yoshida, Mitsuko Nakashima, Tohru Okanishi, Sotaro Kanai, Ayataka Fujimoto, Kazuya Itomi, Masafumi Morimoto, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Tomohiro Chiyonobu
BCL11A encodes a zinc finger protein that is highly expressed in hematopoietic tissues and the brain, and that is known to function as a transcriptional repressor of fetal hemoglobin (HbF). Recently, de novo variants in BCL11A have been reported in individuals with intellectual disability syndrome without epilepsy. In this study, we performed whole-exome sequencing of 302 patients with epileptic encephalopathies (EEs), and identified two novel BCL11A variants, c.577delC (p.His193Metfs*3) and c.2351A>C (p...
June 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28584915/understanding-lennox-gastaut-syndrome-insights-from-focal-epilepsy-patients-with-lennox-gastaut-features
#9
Sophie Dupont, Raluca Banica-Wolters, Isabelle An-Gourfinkel, Virginie Lambrecq, Vincent Navarro, Claude Adam, Vi-Huong Nguyen-Michel
To delineate the clinical and EEG features of adults with focal epilepsy associated with a generalized paroxysmal fast activity (GPFA) pattern on EEG who developed refractory seizures, notably drop attacks, but do not fulfill the classical triad for the diagnosis of Lennox-Gastaut syndrome (LGS) and provide further insight into LGS mechanisms. Among 957 patients admitted to video-EEG monitoring between 2002 and 2015, we retrospectively research adult patients with refractory focal epilepsy, drop attacks and GPFA on EEG...
July 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28528895/influence-of-perfluorocarbons-on-carbamazepine-and-benzodiazepine-for-a-neuro-lung-protective-strategy
#10
V Natchimuthu, Sabu Thomas, Murugan Ramalingam, S Ravi
Lennox-Gastaut syndrome (LGS) is commonly characterized by a triad of features including multiple seizure types, intellectual disability or regression. LGS type of seizures is epilepsy which is due to abnormal vibrations occurring in seizures. During the time of such abnormal vibrations, both the seizures and the lungs suffer a lack in oxygen content to a considerable extent. This results in prolonged vibrations and loses of nervous control. As a neuro-lung protective strategy, a novel attempt has been made to enrich both seizures and lungs with oxygen content through the support of Perfluorodecalin (an excellent oxygen carrier) C10F18 (PFD) and Perfluorohexane C6F14 (PFH) along with an enhancement in the antiepileptic activity by the two chosen antiepileptic drugs (AEDs) Carbamazepine (CBZ) and Benzodiazepine (BDZ)...
May 18, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#11
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28523600/sodium-channel-blockers-in-the-treatment-of-epilepsy
#12
Martin J Brodie
Sodium channel blockers have been the mainstay of the pharmacological management of focal and generalised tonic-clonic seizures for more than 70 years. The focus of this paper will be on phenytoin, carbamazepine, lamotrigine, oxcarbazepine, rufinamide, lacosamide and eslicarbazepine acetate. All these antiepileptic drugs have similar efficacy and share similar dose-dependent, adverse effect profiles, although phenytoin, carbamazepine and oxcarbazepine are more likely to cause idiosyncratic reactions than the others...
July 2017: CNS Drugs
https://www.readbyqxmd.com/read/28513609/application-of-rare-variant-transmission-disequilibrium-tests-to-epileptic-encephalopathy-trio-sequence-data
#13
(no author information available yet)
The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient-parent trios that were generally prescreened for rare metabolic disorders...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28479797/lennox-gastaut-syndrome-a-prospective-follow-up-study
#14
Bhanu Pratap Rathaur, Ravindra Kumar Garg, Hardeep Singh Malhotra, Neeraj Kumar, Praveen Kumar Sharma, Rajesh Verma, Ravi Uniyal
OBJECTIVES: Lennox-Gastaut syndrome is a catastrophic epileptic encephalopathy. In Lennox-Gastaut syndrome, seizures are resistant to pharmacological treatment. In this prospective study, we evaluated the clinical features, neuroimaging, and response to treatment. MATERIALS AND METHODS: Forty-three consecutive newly diagnosed patients of Lennox-Gastaut syndrome were enrolled in the study. Baseline clinical assessment included seizure semiology, seizure frequency, electroencephalography, and neuroimaging...
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28471101/ophthalmologic-features-of-lennox-gastaut-syndrome
#15
Bo Hee Kim, Young Suk Yu, Seong Joon Kim
PURPOSE: To describe the characteristics and frequency of ophthalmologic findings in patients with Lennox-Gastaut syndrome (LGS). METHODS: The medical records of patients diagnosed with LGS at Seoul National University Children's Hospital from January 2004 to August 2014 were retrospectively reviewed. The records of 34 patients (mean age ± standard deviation, 2.66 ± 3.51 years; male, 58.8%) were reviewed. The primary measure was the incidence of ophthalmologic manifestations...
June 2017: Korean Journal of Ophthalmology: KJO
https://www.readbyqxmd.com/read/28461749/treatment-resistant-lennox-gastaut-syndrome-therapeutic-trends-challenges-and-future-directions
#16
REVIEW
Adam P Ostendorf, Yu-Tze Ng
Lennox-Gastaut syndrome is a severe, childhood-onset electroclinical syndrome comprised of multiple seizure types, intellectual and behavioral disturbances and characteristic findings on electroencephalogram of slow spike and wave complexes and paroxysmal fast frequency activity. Profound morbidity often accompanies a common and severe seizure type, the drop attack. Seizures often remain refractory, or initial treatment efficacy fades. Few individuals are seizure free despite the development of multiple generations of antiseizure medications over decades and high-level evidence on several choices...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28431772/low-glycemic-index-treatment-in-patients-with-drug-resistant-epilepsy
#17
Se Hee Kim, Hoon-Chul Kang, Eun Joo Lee, Joon Soo Lee, Heung Dong Kim
OBJECTIVE: Low glycemic index treatment (LGIT) is a newly developed dietary therapeutic option for epilepsy that is less restrictive than the ketogenic diet (KD). Our objective was to determine the efficacy and tolerability of LGIT. METHODS: From March 2014 to February 2015, 36 patients received LGIT at Severance Children's Hospital. One-year seizure outcomes and side effects were evaluated. RESULTS: A total of 36 patients were assessed. Fourteen were female...
April 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28427564/inflammation-in-epileptic-encephalopathies
#18
Oleksii Shandra, Solomon L Moshé, Aristea S Galanopoulou
West syndrome (WS) is an infantile epileptic encephalopathy that manifests with infantile spasms (IS), hypsarrhythmia (in ~60% of infants), and poor neurodevelopmental outcomes. The etiologies of WS can be structural-metabolic pathologies (~60%), genetic (12%-15%), or of unknown origin. The current treatment options include hormonal treatment (adrenocorticotropic hormone and high-dose steroids) and the GABA aminotransferase inhibitor vigabatrin, while ketogenic diet can be given as add-on treatment in refractory IS...
2017: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/28392943/report-from-a-survey-of-parents-regarding-the-use-of-cannabidiol-medicinal-cannabis-in-mexican-children-with-refractory-epilepsy
#19
Carlos G Aguirre-Velázquez
Structured online surveys were used to explore the experiences of the parents of children with refractory epilepsy using medicinal cannabis in Mexico during September 2016. The surveys, which were completed in full, were reviewed, and 53 cases of children aged between 9 months and 18 years were identified. Of these, 43 cases (82%) were from Mexico and 10 (18%) were from Latin American countries. Of the 43 Mexican cases, the diagnoses were as follows: 20 cases (47%) had Lennox-Gastaut syndrome (LGS); 13 cases (30%) had unspecified refractory epilepsy (URE); 8 cases (19%) had West syndrome (WS); 1 case (2%) had Doose syndrome (DS); and 1 case (2%) had Ohtahara syndrome (OS)...
2017: Neurology Research International
https://www.readbyqxmd.com/read/28386925/vagus-nerve-stimulation-surgical-technique-of-implantation-and-revision-and-related-morbidity
#20
REVIEW
Flavio Giordano, Anna Zicca, Carmen Barba, Renzo Guerrini, Lorenzo Genitori
Indications for vagus nerve stimulation (VNS) therapy include focal, multifocal epilepsy, drop attacks (tonic/atonic seizures), Lennox-Gastaut syndrome, tuberous sclerosis complex (TSC)-related multifocal epilepsy, and unsuccessful resective surgery. Surgical outcome is about 50-60% for seizures control, and may also improve mood, cognition, and memory. On this basis, VNS has also been proposed for the treatment of major depression and Alzheimer's' disease. The vagus nerve stimulator must be implanted with blunt technique on the left side to avoid cardiac side effects through the classic approach for anterior cervical discectomy...
April 2017: Epilepsia
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