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Brain Sci 2022 Jun 11;12(6). Epub 2022 Jun 11.

Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Nakaku, Hamamatsu 430-8558, Shizuoka, Japan.

Background: To prevent the spread of coronavirus disease 2019 (COVID-19), hyperventilation (HV) activation has been avoided in electroencephalograms (EEGs) since April 2020. The influence of omitting HV in EEG on epilepsy diagnosis remains uncertain for patients with epilepsies other than child absence epilepsy. We hypothesized that EEGs with HV would show more interictal epileptiform discharges (IEDs) than EEGs without HV in patients with juvenile myoclonic epilepsy (JME). Read More

Front Neurol 2022 1;13:875950. Epub 2022 Jun 1.

Department of Psychology, Naturwissenschaftliche Fakultaet, Centre for Cognitive Neuroscience, Paris-Lodron University, Salzburg, Austria.

Objective: According to Panksepp's hierarchical emotion model, emotion processing relies on three functionally and neuroanatomically distinct levels. These levels comprise subcortical networks (primary level), the limbic system (secondary level), and the neocortex (tertiary level) and are suggested to serve differential emotional processing. We aimed to validate and extend previous evidence of discrete and dimensional emotion processing in patient with juvenile myoclonic epilepsy (JME). Read More

Int J Pediatr Adolesc Med 2022 Jun 26;9(2):131-135. Epub 2021 Nov 26.

Division of Pediatric Neurology, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.

Purpose And Background: To evaluate the electro-clinical manifestations and outcomes of children with absence epilepsy at a tertiary center in Saudi Arabia.

Methods: This retrospective study reviewed the medical and EEG records of patients who were diagnosed to have CAE as per the International League Against Epilepsy (ILAE) definition for CAE. The study was conducted in the pediatric neurology clinic of King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia, between January 2000 and December 2019. Read More

Front Neurol 2022 16;13:883078. Epub 2022 May 16.

Department of Neurology, Xuanwu Hospital Capital Medical University, Beijing, China.

Objective: To explore the structural brain abnormality and its relationship with neuropsychological disorders and electroclinical characteristics in juvenile myoclonic epilepsy (JME) patients.

Methods: Sixty-seven patients diagnosed with JME and 56 healthy controls were enrolled. All subjects underwent MRI using T1-weighted 3D brain structural images with 1 mm thickness. Read More

Brain Sci 2022 Apr 26;12(5). Epub 2022 Apr 26.

Unit of Neurology, OCB, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy.

In this paper, we describe the multimodal MRI findings in a patient with Wilson disease and a seizure disorder, characterized by an electroclinical picture resembling juvenile myoclonic epilepsy. The brain structural MRI showed a deposition of ferromagnetic materials in the basal ganglia, with marked hypointensities in T2-weighted images of globus pallidus internus bilaterally. A resting-state fMRI study revealed increased functional connectivity in the patient, compared to control subjects, in the following networks: (1) between the primary motor cortex and several cortical regions, including the secondary somatosensory cortex and (2) between the globus pallidus and the thalamo-frontal network. Read More

J Neurol 2022 May 20. Epub 2022 May 20.

Department of Clinical Neurophysiology, Copenhagen University Hospital, Copenhagen, Denmark.

Background: We aimed to determine school performance and psychiatric comorbidity in juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and generalized tonic-clonic seizures (GTCS) alone.

Methods: All children (< 18 years) fulfilled International League Against Epilepsy criteria after review of their medical records. Control groups were the pediatric background population or children with non-neurological chronic disease. Read More

Seizure 2022 Jul 10;99:48-53. Epub 2022 May 10.

Department of Pediatric Neurology, Istanbul Medipol University Faculty of Medicine, Istanbul, Turkey.

Purpose: Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication (ASM) use in patients with JME. Read More

Orphanet J Rare Dis 2022 05 3;17(1):179. Epub 2022 May 3.

Centogene GmbH, Am Strande 7, 18057, Rostock, Germany.

Background: Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first clinical signs usually appear between 18 months and 8 years, but examples of later-onset have also been reported. Common manifestations include ataxia, seizures, vision impairment, and developmental regression. Read More

Epilepsia 2022 06 3;63(6):1475-1499. Epub 2022 May 3.

Divisions of Child and Adolescent Neurology and Epilepsy, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

In 2017, the International League Against Epilepsy (ILAE) Classification of Epilepsies described the "genetic generalized epilepsies" (GGEs), which contained the "idiopathic generalized epilepsies" (IGEs). The goal of this paper is to delineate the four syndromes comprising the IGEs, namely childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. We provide updated diagnostic criteria for these IGE syndromes determined by the expert consensus opinion of the ILAE's Task Force on Nosology and Definitions (2017-2021) and international external experts outside our Task Force. Read More

Front Neurosci 2022 14;16:864040. Epub 2022 Apr 14.

Department of Magnetic Resonance, Lanzhou University Second Hospital, Lanzhou, China.

The central brain regions of brain networks have been extensively studied in terms of their roles in various diseases. This study provides a direct measure of the brain's responses to targeted attacks on central regions, revealing the critical role these regions play in patients with juvenile myoclonic epilepsy (JME). The resting-state data of 37 patients with JME and 37 healthy subjects were collected, and brain functional networks were constructed for the two groups of data according to their Pearson correlation coefficients. Read More

Clin Epidemiol 2022 19;14:501-509. Epub 2022 Apr 19.

National Institute of Public Health, University of Southern Denmark, Copenhagen, Capital Region, Denmark.

Objective: To identify pediatric idiopathic generalized epilepsy (IGE) during 1994-2019 using ICD-10 codes in the Danish National Patient Register and anti-seizure prescriptions in the Danish Prescription Database.

Study Design And Setting: We reviewed the medical records in children with ICD-10 codes for IGE before 18 years of age, and pediatric neurologists confirmed that the International League Against Epilepsy criteria were met. We estimated positive predictive values (PPV) and sensitivity for ICD-10 alone, including combinations of codes, anti-seizure prescription, and age at first code registration using medical record-validated diagnoses as gold standard. Read More

Epilepsia Open 2022 06 28;7(2):332-343. Epub 2022 Apr 28.

Department of Child Neurology, NHO Nishiniigata Chuo Hospital, Niigata, Japan.

Objective: This study aimed to identify the recurrence rate of genetic generalized epilepsy (GGE) and risk factors for recurrence after antiseizure medication (ASM) withdrawal in adolescent patients.

Methods: We retrospectively reviewed medical records of patients with GGE who were included in the registry at the Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital from 2000 through 2020. The eligibility criteria were as follows: onset of epileptic seizures at <15 years of age, treatment with an ASM, and attempted treatment withdrawal at 10-19 years of age. Read More

Hum Brain Mapp 2022 Apr 13. Epub 2022 Apr 13.

Key Laboratory for Biomedical Engineering of Ministry of Education, Department of Biomedical Engineering, Zhejiang University, Hangzhou, China.

Neuroimaging studies have shown that juvenile myoclonic epilepsy (JME) is characterized by impaired brain networks. However, few studies have investigated the potential disruptions in rich-club organization-a core feature of the brain networks. Moreover, it is unclear how structure-function relationships dynamically change over time in JME. Read More

Isr Med Assoc J 2022 Apr;24(4):253-257

Hadassah Medical Organization, Faculty of Medicine, Hebrew University of Jerusalem, Israel.

Background: Patients with juvenile myoclonic epilepsy (JME) are especially prone to having antiseizure medications (ASMs) withdrawal seizures (WS).

Objectives: To clarify whether WS in JME patients are caused by a high tendency of non-adherence from seizure-free patients or by a constitutive increased sensitivity to drug withdrawal.

Methods: Epilepsy patients followed in a tertiary epilepsy clinic between 2010 and 2013 were included in the study. Read More

Ann Indian Acad Neurol 2022 Jan-Feb;25(1):140-141. Epub 2021 Apr 21.

Department of Pediatrics, Pediatric Neurology Division, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Ann Indian Acad Neurol 2022 Jan-Feb;25(1):35-42. Epub 2022 Feb 1.

Advisor & Senior Consultant in Neurology, Apollo Institute of Neurosciences, Jayanagar, Bangalore, India.

Idiopathic generalized epilepsies (IGEs) are a group of epilepsies characterized by an underlying genetic predisposition and a good response to antiseizure medicines (ASMs) in the majority of the patients. Of the various broad-spectrum ASMs, valproate is the most effective medicine for the control of seizures in IGEs. However, with the availability of many newer ASMs and evidence showing the high teratogenic potential of valproate, the choice of ASMs for IGEs has become increasingly difficult, especially in women of the child-bearing age group. Read More

Life (Basel) 2022 Mar 16;12(3). Epub 2022 Mar 16.

Section of Epilepsy, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University College of Medicine, 5 Fu-Shin Street, Kwei-Shan, Taoyuan 333, Taiwan.

Juvenile myoclonic epilepsy (JME) is a primary generalized epilepsy which is closely related to the sleep-wake cycle. This study aimed to investigate whether sleep disturbance is more common among patients with JME and the impact this may have on their quality of life (QOL). Thirty-four patients with JME and age- and gender-matched controls were recruited into this case control study, and assessed using validated sleep questionnaires including the Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), and Stanford Sleepiness Scale (SSS). Read More

Noro Psikiyatr Ars 2022 31;59(1):68-76. Epub 2022 Jan 31.

Istanbul University, Istanbul Faculty of Medicine, Department of Neurology and Clinical Neurophysiology, Istanbul, Turkey.

Epilepsy is a dynamic and heterogeneous neurological disease, and in long-term studies on prognosis, classically 5 basic patterns (early remission, late remission, relapsing-remitting, worsening, and non-remitting) have been identified. The most frequent pattern was relapsing-remitting course, and factors such as the presence of genetic etiology, rare seizures at the beginning of epilepsy and the absence of psychiatric comorbid diseases were found to be related with this pattern as well as reaching 5 years of remission in the follow-ups. Anti-seizure drug resistance (ASD-R) and factors affecting the presence of this resistance (such as symptomatic etiology, abnormal electroencephalographic findings, having multiple seizure types together, status epilepticus and febrile seizure history) decrease the chance of remission, while idiopathic/genetic etiology, generalized epilepsy, and absence of comorbid diseases seem to be associated with achieving long-term remission. Read More

Epilepsy Behav 2022 May 17;130:108633. Epub 2022 Mar 17.

Department of Neurology, Odense University Hospital, Denmark; Department of Clinical Research, University of Southern Denmark, Denmark; OPEN, Open Patient Data Explorative Network, Odense University Hospital, Odense, Denmark. Electronic address:

Objective: The aim of the study was to determine risk factors associated with pseudoresistance in a large, representative cohort of patients with Idiopathic/Genetic Generalized Epilepsy (IGE) and the impact of pseudoresistance on socioeconomic parameters.

Methods: We performed a literature review on definitions of pseudoresistance in IGE. In an established cohort of patients with IGE from Funen, patients with current or previous pseudoresistant seizures were retrospectively identified based on a comprehensive evaluation of the patients' medical records and direct patient contact, if required. Read More

J Gen Fam Med 2022 Mar 23;23(2):107-109. Epub 2021 Sep 23.

Development of Community Healthcare Hirosaki University Graduate School of Medicine Aomori Japan.

A 17-year-old female patient presented to our hospital with repeated transient loss of consciousness lasting less than 10 min. After regaining consciousness, she experienced no disorientation, confusion, tongue-biting, or incontinence. Physical findings, blood tests, electrocardiogram, and echocardiogram showed no obvious abnormalities. Read More

Seizure 2022 Apr 3;97:15-19. Epub 2022 Mar 3.

Epilepsy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Objectives: To investigate the seizure outcome in patients with juvenile myoclonic epilepsy (JME) and its associated factors. We also investigated the social outcome of these patients.

Methods: This was a retrospective study. Read More

Front Neurol 2022 7;13:793212. Epub 2022 Feb 7.

Laboratory of Early Markers of Neurodegeneration, Centre for the Study of Movement, Cognition, and Mobility, Tel Aviv Sourasky Medical Centre, Neurological Institute, Tel Aviv, Israel.

Juvenile myoclonic epilepsy (JME) is one of the most common epileptic syndromes; it is estimated to affect 1 in 1,000 people worldwide. Most people with JME respond well to medication, but up to 30% of them are drug-resistant. To date, there are no biomarkers for drug resistance in JME, and the poor response to medications is identified in retrospect. Read More

Brain Commun 2022 15;4(1):fcac037. Epub 2022 Feb 15.

Department of Neuroscience, Odontostomatology and Reproductive Sciences, Federico II University, Naples, Italy.

Familial adult myoclonic epilepsy type 2 is a hereditary condition characterized by cortical tremor, myoclonus and epilepsy. It belongs to the spectrum of cortical myoclonus and the sensorimotor cortex hyperexcitability represents an important pathogenic mechanism underlying this condition. Besides pericentral cortical structures, the impairment of subcortical networks seems also to play a pathogenetic role, mainly via the thalamo-cortical pathway. Read More

Front Genet 2022 11;13:761178. Epub 2022 Feb 11.

Faculty of Pediatrics, Chinese PLA General Hospital, BaYi Children's Hospital, The Seventh Medical Center of PLA General Hospital, Beijing, China.

Pathogenic variants in have been reported to have a wide range of phenotypic variability in neurodevelopmental disorders, such as early-onset epileptic encephalopathy, developmental delay, and behavior problems. So far, there is no clear correlation between genotypes and phenotypes. This study reports a Chinese patient with a novel heterozygous mutation (c. Read More

Sci Rep 2022 02 21;12(1):2785. Epub 2022 Feb 21.

Department of Basic and Clinical Neurosciences, Maurice Wohl Clinical Neurosciences Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 5 Cutcombe Road, London, SE5 9RX, UK.

Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants, and their influence on prognosis in JME, through cross-sectional data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1. Read More

Epilepsia 2022 06 6;63(6):1516-1529. Epub 2022 Apr 6.

Department of Neurology and Clinical Neurophysiology, Faculty of Medicine, Muğla Sıtkı Koçman University, Muğla, Turkey.

Objective: The link between headache and epilepsy is more prominent in patients with idiopathic/genetic epilepsy (I/GE). We aimed to investigate the prevalence of headache and to cluster patients with regard to their headache and epilepsy features.

Methods: Patients aged 6-40 years, with a definite diagnosis of I/GE, were consecutively enrolled. Read More

BMC Neurol 2022 Feb 9;22(1):48. Epub 2022 Feb 9.

Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Background: By definition, the background EEG is normal in juvenile myoclonic epilepsy (JME) patients and not accompanied by other developmental and cognitive problems. However, some recent studies using quantitative EEG (qEEG) reported abnormal changes in the background activity. QEEG investigation in patients undergoing anticonvulsant treatment might be a useful approach to explore the electrophysiology and anticonvulsant effects in JME. Read More