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Myoclonic epilepsy

Charles Ákos Szabó, Lola C Morgan, Suzanne Sonnenberg, Kameel M Karkar
Since lacosamide was approved as an adjuvant agent for the treatment of medically refractory focal epilepsy over ten years ago, it is becoming more widely used for the treatment of idiopathic (genetic) generalized epilepsies. Several studies have demonstrated efficacy in reducing primary generalized tonic-clonic seizures (GTCS), but efficacy is less well-characterized for myoclonic and absence seizures. A 29-year-old man with juvenile myoclonic epilepsy and medically refractory GTCS on a combination of levetiracetam and topiramate was started on lacosamide adjunctive therapy with the plan to replace topiramate...
February 18, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
Mariam Tashkandi, Duaa Baarma, Andrea C Tricco, Cyrus Boelman, Reem Alkhater, Berge A Minassian
Rolandic (RE), childhood absence (CAE) and juvenile myoclonic (JME) epilepsy encompass centrotemporal sharp waves, 3-Hz spike waves and >3-Hz spike or polyspike waves, respectively. Evidence abounds for genetic roles in all three syndromes, yet involved genes for the vast majority of patients remain unknown. It has long been proposed that while each disease is genetically complex, its specific EEG trait may represent a genetically simpler endophenotype. This meta-analysis of the literature focuses on the frequency of EEG traits in clinically unaffected first-degree relatives towards determining inheritance patterns of the EEG endophenotypes...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
Domenico Serino, Chiara Davico, Nicola Specchio, Carlo Efisio Marras, Franco Fioretto
Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans. Most reported mutations are associated with mild, non-progressive neurological impairment. We describe the clinical and EEG data of a patient with progressive myoclonus epilepsy (PME), CGL2, and progressive neurological impairment, carrying a homozygous BSCL2 nonsense mutation...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
Takeshi Mizuguchi, Takeshi Suzuki, Chihiro Abe, Ayako Umemura, Katsushi Tokunaga, Yosuke Kawai, Minoru Nakamura, Masao Nagasaki, Kengo Kinoshita, Yasunobu Okamura, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto
We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic variants. Similar clinical courses of a devastating neurodegenerative phenotype of two affected siblings were highly suggestive of a genetic etiology, which indicates that the survey of genetic variation by whole-exome sequencing was not comprehensive. To investigate the presence of a variant that remained unrecognized by standard genetic testing, PacBio long-read sequencing was performed...
February 13, 2019: Journal of Human Genetics
Fatma Genç, Murat Kara, Yasemin Ünal, Elif Uygur Küçükseymen, Yasemin Biçer Gömceli, Taner Kaynar, Kürşad Tosun, Gülnihal Kutlu
The etiology of juvenile myoclonic epilepsy (JME) is still unknown and the process of elaboration of multiple genetic mechanisms is ongoing. The aim of this study was to investigate the potential role of NKCC1 (SCL12A2) and KCC2 (SCL12A5) in JME by comparing their DNA methylation status in patients with JME versus healthy controls. Forty-nine patients with JME and 39 healthy individuals were compared for DNA methylation at the 5CpG islands. A total of 71 (81%) samples were found to have methylation in the NKCC1 gene, 36 (73%) from patients and 35 (90%) from healthy individuals...
February 13, 2019: Neurological Sciences
Ho-Joon Lee, Kang Min Park
OBJECTIVES: We aimed to evaluate structural and functional connectivity of patients with newly diagnosed juvenile myoclonic epilepsy (JME) compared to healthy subjects. METHODS: We enrolled 36 patients with a diagnosis of JME, who were newly diagnosed and drug-naïve. They underwent T1-weighted imaging, and structural volumes were calculated using FreeSurfer software. In addition, EEG data were obtained from all of them. Structural and functional connectivity matrices were estimated by calculating the structural volumes and EEG amplitude correlation, respectively...
February 13, 2019: Acta Neurologica Scandinavica
Anna Serafini, Elizabeth Gerard, Pierre Genton, Arielle Crespel, Philippe Gelisse
Juvenile myoclonic epilepsy (JME) is both a frequent and a very characteristic epileptic syndrome with female preponderance. Treatment of JME in women of childbearing potential must consider multiple factors such as desire for pregnancy, use of contraception, seizure control and previously used antiepileptic drugs (AEDs). Approximately 85% of cases are well controlled with valproate, which remains the reference AED in JME but is nowadays considered unsafe for the expecting mother and her fetus. The prescription of valproate is now severely restricted in women of childbearing potential but may still be considered, at the lowest possible dose and when pregnancies can be reliably planned, with temporary alternatives to valproate prescribed before fertilization...
February 11, 2019: CNS Drugs
Rogerio R Gerbatin, Luiz Fernando Almeida Silva, Maurício S Hoffmann, Iuri D Della-Pace, Patricia Severo do Nascimento, Aline Kegler, Viviane Nogueira de Zorzi, Jane Marçal Cunha, Priscilla Botelho, João Bento Torres Neto, Ana Flavia Furian, Mauro Schneider Oliveira, Michele R Fighera, Luiz Fernando Freire Royes
Traumatic brain injury (TBI) is a devastating disease frequently followed by behavioral disabilities including post-traumatic epilepsy (PTE). Although reasonable progress in understanding its pathophysiology has been made, treatment of PTE is still limited. Several studies have shown the neuroprotective effect of creatine in different models of brain pathology, but its effects on PTE is not elucidated. Thus, we decided to investigate the impact of delayed and chronic creatine supplementation on susceptibility to epileptic seizures evoked by pentylenetetrazol (PTZ) after TBI...
February 8, 2019: Progress in Neuro-psychopharmacology & Biological Psychiatry
Satoru Ikemoto, Shin-Ichiro Hamano, Yuko Hirata, Ryuki Matsuura, Reiko Koichihara
We retrospectively investigated whether perampanel (PER) could serve as an alternative for treating drug-resistant seizures in lissencephaly. We investigated the following data: age at onset of epilepsy, age at start of PER, etiology, brain MRI findings, seizure type, seizure frequency, adverse effects, and concomitant anti-epileptic drugs. There were 5 patients with lissencephaly, including 2 with Miller-Dieker syndrome. Four out of five patients exhibited ≥ 50% seizure reduction. Myoclonic seizures disappeared in 1 patient...
2019: Epilepsy & Behavior Case Reports
Herbert Schulz, Ann-Kathrin Ruppert, Federico Zara, Francesca Madia, Michele Iacomino, Maria S Vari, Ganna Balagura, Carlo Minetti, Pasquale Striano, Amedeo Bianchi, Carla Marini, Renzo Guerrini, Yvonne G Weber, Felicitas Becker, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rikke S Møller, Karen L Oliver, Susannah T Bellows, Saul A Mullen, Samuel F Berkovic, Ingrid E Scheffer, Hande Caglayan, Ugur Ozbek, Per Hoffmann, Sara Schramm, Despina Tsortouktzidis, Albert J Becker, Thomas Sander
Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies suggest that the gene encoding the bromodomain-containing protein 2 (BRD2) may increase risk of JME. The present methylation and association study followed up a recent report highlighting that the BRD2 promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with JME compared to patients with other GGE subtypes and unaffected relatives...
February 4, 2019: Epilepsia
Jia Liu, Lu-Ning Wang, Yu-Ping Wang
BACKGROUND: Topiramate is a newer broad-spectrum antiepileptic drug (AED). Some studies have shown the benefits of topiramate in the treatment of juvenile myoclonic epilepsy (JME). However, there are no current systematic reviews to determine the efficacy and tolerability of topiramate in people with JME. This is an update of a Cochrane Review first published in 2015, and last updated in 2017. OBJECTIVES: To evaluate the efficacy and tolerability of topiramate in the treatment of JME...
January 28, 2019: Cochrane Database of Systematic Reviews
Nitish Chourasia, Henry Ossó-Rivera, Ankita Ghosh, Gretchen Von Allmen, Mary Kay Koenig
BACKGROUND: The CACNA1H gene mutations encoding the α1H subunit of Cav3.2 T-type calcium channels have been associated with generalized epilepsy. Focal or multifocal epilepsy and systemic (immunologic and gastrointestinal) involvement associated with these mutations have not been described previously. We detail the clinical characteristics of five patients with CACNA1H mutations and expand its phenotypic spectrum. METHODS: A case series of five patients with pathogenic CACNA1H mutations was evaluated...
December 19, 2018: Pediatric Neurology
Shinsaku Yoshitomi, Yukitoshi Takahashi, Katsumi Imai, Eriko Koshimizu, Satoko Miyatake, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato, Takako Fujita, Atsushi Ishii, Shinichi Hirose, Yushi Inoue
PURPOSE: In rare cases, patients with epilepsy of infancy withmigrating focal seizures (EIMFS) exhibit suppression-burst (SB) patterns on electroencephalography (EEG), similar to the findings observed in patients with Ohtahara syndrome and early myoclonic encephalopathy. In this report, we discuss six cases of EIMFS in which patients exhibited two types of SB patterns. METHODS: We evaluated six patients with EIMFS who had been admitted to the NHO Shizuoka Institute of Epilepsy and Neurological Disorders between 2011 and 2018...
January 18, 2019: Seizure: the Journal of the British Epilepsy Association
Svetlana Gataullina, Thierry Bienvenu, Rima Nabbout, Gilles Huberfeld, Olivier Dulac
The aim of this study was to disentangle mechanisms of epileptogenesis in monogenic epilepsies in children. We reviewed paediatric monogenic epilepsies excluding brain malformation or an inborn error of metabolism, but including the gene function whether there is loss-of-function or gain-of-function, age at gene expression when available, and associated epilepsy syndrome. Genes for which at least five patients with similar epilepsy phenotype had been reported were selected. Three mechanisms are shared by most monogenic epilepsies: (1) excess of N-methyl-d-aspartate (NMDA) transmission activation (NMDA-pathies); (2) abnormal gamma-aminobutyric acid (GABA) transmission with reduced inhibition (phasic GABA-pathies); and (3) tonic activation of extrasynaptic GABAA receptors by extracellular GABA (tonic GABA-pathies)...
January 25, 2019: Developmental Medicine and Child Neurology
Kang Min Park, Sung Eun Kim, Byung In Lee, Yun Jung Hur
BACKGROUND: We aimed to evaluate the brain morphology of patients with genetic generalized epilepsy (GGE) compared to healthy subjects. In addition, we investigated whether there are differences in brain morphology among different GGE syndromes. METHODS: We enrolled 100 patients with a clinical diagnosis of GGE. The patients were classified into different syndrome groups according to their predominant seizure type, age of seizure onset, and electroencephalography characteristics (12 childhood absence epilepsy [AE], 13 juvenile AE, 56 juvenile myoclonic epilepsy, and 19 epilepsy with generalized tonic-clonic alone)...
January 18, 2019: European Neurology
Katie Angione, Krista Eschbach, Garnett Smith, Charuta Joshi, Scott Demarest
Epilepsy with myoclonic-atonic seizures (EMAS) accounts for 1-2% of all childhood-onset epilepsies. EMAS has been shown to have an underlying genetic component, however the genetics of this disorder is not yet well understood. The purpose of this study was to review genetic testing results for a cohort of EMAS patients. A retrospective chart review was conducted for 77 patients evaluated at Children's Hospital Colorado with a potential diagnosis of EMAS. Genetic testing and biochemical testing was reviewed...
January 14, 2019: Epilepsy Research
Xavier Salas-Puig, Marc Iniesta, Laura Abraira, Josep Puig
PURPOSE: Patients with epilepsy have a higher risk of accidental injuries. The aim of this study was to determine the incidence of accidental injuries and quality of life in patients with epilepsy and generalized tonic-clonic seizures and their association with patient-related factors. METHODS: This is an observational, cross-sectional, multicenter study of patients with epilepsy and primary generalized tonic-clonic seizures and/or focal to bilateral tonic-clonic seizures in the routine clinical practice of epilepsy clinics...
January 15, 2019: Epilepsy & Behavior: E&B
Xiangyu Zheng, Zan Wang, Chang Liu, Minghui Hu, Yudan Lv
RATIONALE: The diagnosis of myoclonic epilepsy and the classification of generalized or partial type may be challenging, especially when the scalp electroencephalogram (EEG) is normal. In such situation, how to apply another electrophysiological technique to begin the diagnosis and classification? The utility of Jerk-locked back averaging technique has been described in our case. PATIENT CONCERNS: A Chinese patient (male, 21 years old) presented with frequent unilateral or bilateral shoulder-jerking...
January 2019: Medicine (Baltimore)
Federica Lotti, Ursula Geronzi, Salvatore Grosso
MECP2 duplication syndrome (MECP2 DS) is an X-linked disorder characterized by early-onset hypotonia, poor speech development, recurrent respiratory infections, epilepsy and progressive spasticity. Epilepsy occurs in more than 50% of the affected patients. Generalized tonic-clonic seizures (GTCS) are the most common seizure-type described but atonic seizures, absences and myoclonic seizures have also been reported. Electroencephalographic (EEG) and seizure types occurring in MECP2 DS have been poorly investigated...
January 11, 2019: Brain & Development
Mario Brinciotti, Francesca Fioriello, Antonio Mittica, Laura Bernardini, Marina Goldoni, Maria Matricardi
The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.31 microduplication associated with different forms of epilepsy and epileptiform EEG abnormalities. The proband had benign epilepsy with centrotemporal spikes with dysgraphia and dyscalculia (IQ 72), the sister had juvenile myoclonic epilepsy, and both had bilateral talipes anomalies. The mother, who was the carrier of the microduplication, was asymptomatic. The asymptomatic father did not possess the microduplication...
2019: Epilepsy & Behavior Case Reports
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