Article
Clinical Neurology
Samuel F. Berkovic, Pasquale Striano, Shoji Tsuji
Summary: Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) is a specific and recognizable epilepsy syndrome with autosomal dominant inheritance. Initially, it was confused with other familial myoclonus epilepsies but was later recognized as a distinct syndrome in Japan. Families with this syndrome were subsequently identified worldwide, and it was found to be caused by pentanucleotide expansions in at least six genes. The phenotype varies within and between families, mainly due to expansion size.
Review
Clinical Neurology
Giovanni Assenza, Cristofaro Nocerino, Mario Tombini, Giancarlo Di Gennaro, Alfredo D'Aniello, Alberto Verrotti, Alfonso Marrelli, Lorenzo Ricci, Jacopo Lanzone, Vincenzo Di Lazzaro, Leonilda Bilo, Antonietta Coppola
Summary: Perampanel showed significant improvement in symptoms of PMEs patients, particularly in myoclonus, disability, and seizures, with the best response seen in individuals with Unverricht-Lundborg disease. While no prospective trials were found, a systematic review revealed that the majority of patients had positive responses to perampanel.
FRONTIERS IN NEUROLOGY
(2021)
Letter
Clinical Neurology
Jinhee Kim, Ilsoo Kim, Seong-Beom Koh
Summary: A novel variant of DHDDS mutation was reported in a patient with progressive adult-onset myoclonus ataxia. The mutation in this patient differed from previous reports of denovo mutations in DHDDS in 6 patients who exhibited tremor-like myoclonus and generalized epilepsy.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Clinical Neurology
Joanna Gesche, Helle Hjalgrim, Guido Rubboli, Christoph Patrick Beier
Summary: The study found that clinically significant aggravation of seizure frequency is common in lamotrigine-treated JME patients but rare in patients with other GGE sub-syndromes or under treatment with other recommended anti-seizure medication.
Review
Clinical Neurology
Caihong Ji, Jiajia Zhao, Jianfang Zhang, Kang Wang
Summary: This study reports a novel de novo NUS1 missense variant causing progressive myoclonus epilepsy (PME) and reviews the current literature on NUS1-associated PME. Only five cases of NUS1 variants and PME have been reported so far. The relationship between NUS1 variants and PME is not well-established due to limited cases reported.
NEUROLOGICAL SCIENCES
(2023)
Review
Clinical Neurology
Ali Mir, Abdulaziz Alghamdi, Wajd Alotaibi, Daniya Samreen, Manar Alotaibi, Raidah Albaradie, Shahid Bashir
Summary: Epileptic myoclonus or myoclonic seizures are common in idiopathic generalized epilepsy and progressive myoclonus epilepsy. However, symptomatic myoclonus provoked by stimuli or movement is typically seen in progressive myoclonus epilepsy and Lance-Adams syndrome. Recent evidence suggests that perampanel may be effective for the treatment of myoclonic seizures and symptomatic myoclonus.
EPILEPTIC DISORDERS
(2022)
Editorial Material
Clinical Neurology
Eduardo Benarroch
Summary: Emerging evidence suggests that different types of potassium channels play a significant role in shaping the electrophysiological properties of Purkinje cells, with potassium channel mutations being a recognized cause of SCAs and episodic ataxia. These findings point to potassium channels as potential therapeutic targets in these disorders.
Article
Multidisciplinary Sciences
Quentin Plumereau, Aya Ebdalla, Hugo Poulin, Juan Pablo Appendino, Morris H. Scantlebury, Ping Yee Billie Au, Mohamed Chahine
Summary: In this study, a functional test was conducted to assess the effects of a SCN1A gene mutation on epilepsy, and it was found that a specific mutation led to the inability of the Na(V)1.1 channel to produce functional Na+ currents, possibly due to a pore defect in the channel. This study highlights the importance of functional testing in understanding the pathophysiology and potential treatment decisions for epilepsy.
SCIENTIFIC REPORTS
(2022)
Article
Clinical Neurology
Betul Baykan, Silvana Franceschetti, Laura Canafoglia, Gianpiero L. Cavalleri, Roberto Michelucci, Ingrid E. Scheffer
Summary: Familial adult myoclonic epilepsy (FAME) is a under-recognized disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms, which vary depending on the FAME subtype. FAME is caused by pentanucleotide repeat expansions of intronic TTTCA/TTTTA in different genes.
Article
Clinical Neurology
Ken-Ichi Irie, Takahisa Tateishi, Taiga Moritaka, Naonori Sakurada, Shinsuke Kikuchi, Takayuki Taniwaki
Summary: This study reports a rare case of anti-glycine receptor-positive PERM with unilateral brainstem symptoms, myoclonus, and muscle rigidity. The patient showed improvement after treatment and was able to walk.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Jayant N. N. Acharya, Vinita J. J. Acharya
Summary: Myoclonus can be divided into epileptic and nonepileptic types. Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epilepsy with characteristic myoclonic, tonic-clonic, and absence seizures. Recent studies have shown neurological and imaging abnormalities in the frontal lobes and thalamus of JME patients. Progressive myoclonic epilepsy is a distinct syndrome with various specific causes and can be challenging to differentiate from JME or misdiagnosed as drug-resistant JME. Neurophysiological tests can help distinguish between JME and progressive myoclonic epilepsy, as well as different forms of progressive myoclonic epilepsy (EPM1 and EPM2).
JOURNAL OF CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Veterinary Sciences
Carina Rotter, Danielle Whittaker, Clare Rusbridge
Summary: This retrospective study evaluated the presence, age of onset, characteristics, and treatment of myoclonus in older Cavalier King Charles Spaniels (CKCS). The results showed that myoclonus is another epiphenomena of this breed and may be linked to epilepsy.
JOURNAL OF VETERINARY INTERNAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Kouya Uchino, Hiroyuki Kawano, Yasuyoshi Tanaka, Yuna Adaniya, Ai Asahara, Masanobu Deshimaru, Kaori Kubota, Takuya Watanabe, Shutaro Katsurabayashi, Katsunori Iwasaki, Shinichi Hirose
Summary: Patients with Dravet syndrome exhibit abnormalities in inhibitory neurotransmission, which may exacerbate epileptic symptoms.
SCIENTIFIC REPORTS
(2021)
Review
Medicine, General & Internal
Jia Liu, Yao-Jun Tai, Lu-Ning Wang
Summary: This review included three studies with a total of 83 participants. Topiramate may show some efficacy in reducing primarily generalized tonic-clonic seizures (PGTCS), but there is insufficient evidence to support its use in the treatment of juvenile myoclonic epilepsy (JME). Topiramate appears to be better tolerated than valproate, but does not demonstrate clear benefits in terms of efficacy.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2021)
Article
Clinical Neurology
Saara M. Rissanen, Jelena Hypponen, Katri Silvennoinen, Laura Saisanen, Pasi A. Karjalainen, Esa Mervaala, Reetta Kalviainen
Summary: The study developed and tested a wearable monitoring device for detection and quantification of myoclonus in EPM1 patients, finding that the device effectively detected myoclonus and was correlated with different evaluation methods.
CLINICAL NEUROPHYSIOLOGY
(2021)
Article
Clinical Neurology
Anne M. McIntosh, Alex W. Wynd, Samuel F. Berkovic
Summary: This study examined the prevalence and risk factors for late seizure recurrence in a cohort of patients who underwent anterior temporal lobectomy (ATL). The results showed that some patients may experience seizure recurrence several decades after surgery, and this late recurrence is not unique to any specific pathology group and does not differ based on the surgical approach.
Article
Clinical Neurology
Henrike Hanssen, Cid C. E. Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans T. S. Manalo, Andreas Sprenger, Charles Jourdan Reyes, Raphael Tuazon, Bjoern-Hergen Laabs, Aloysius Domingo, Raymond L. Rosales, Christine Klein, Thomas F. Muente, Ana Westenberger, Jean Q. Oropilla, Norbert Brueggemann
Summary: In this study, it was found that X-linked dystonia-parkinsonism has basal ganglia atrophy and iron accumulation before the clinical onset. These findings highlight the potential of early diagnosis and the importance of understanding the prodromal phase of the disease.
ANNALS OF NEUROLOGY
(2023)
Article
Clinical Neurology
Joanne Trinh, Andrew A. Hicks, Inke R. Koenig, Sylvie Delcambre, Theresa Lueth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilarino-Gueell, Faycel Hentati, Elisabeth L. Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostic, Anthony E. Lang, Norbert Brueggemann, Peter P. Pramstaller, Irene Pichler, Alex Rajput, Nobutaka Hattori, Matthew J. Farrer, Katja Lohmann, Hansi Weissensteiner, Patrick May, Christine Klein, Anne Gruenewald
Summary: Trinh et al. found that PINK1/PRKN mutations increase the risk of mitochondrial DNA variant accumulation in a dose- and disease-dependent manner. Monoallelic mutation carriers can be distinguished by the level of heteroplasmic mtDNA variants. Biallelic mutations in PINK1/PRKN lead to recessive Parkinson's disease.
Article
Clinical Neurology
Samuel F. Berkovic, Pasquale Striano, Shoji Tsuji
Summary: Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) is a specific and recognizable epilepsy syndrome with autosomal dominant inheritance. Initially, it was confused with other familial myoclonus epilepsies but was later recognized as a distinct syndrome in Japan. Families with this syndrome were subsequently identified worldwide, and it was found to be caused by pentanucleotide expansions in at least six genes. The phenotype varies within and between families, mainly due to expansion size.
Article
Behavioral Sciences
Anne M. McIntosh, Patrick W. Carney, K. Meng Tan, Tahir M. Hakami, Piero Perucca, Patrick Kwan, Terence J. O'Brien, Samuel F. Berkovic
Summary: Individuals with epilepsy often have comorbid medical and psychiatric conditions, which are associated with poor epilepsy outcomes. This study examined pre-existing conditions in patients with new diagnoses of epilepsy or unprovoked seizures and found high prevalence of psychiatric and substance use disorders. The findings highlight the importance of screening and managing comorbidities in individuals with epilepsy.
EPILEPSY & BEHAVIOR
(2023)
Article
Biochemistry & Molecular Biology
Roberta Biasiotto, Maria Koesters, Katharina Tschigg, Peter P. Pramstaller, Norbert Brueggemann, Max Borsche, Christine Klein, Andrew A. Hicks, Deborah Mascalzoni
Summary: Recall-by-genotype (RbG) research involves recalling participants based on their genotype, potentially leading to disclosure of unwanted genetic information. A study on participant views and preferences regarding RbG research approach provides valuable insights for RbG policy development.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Russell Nightscales, Sarah Barnard, Juliana Laze, Zhibin Chen, Gerard Tao, Clarissa Auvrez, Shobi Sivathamboo, Mark J. Cook, Patrick Kwan, Daniel Friedman, Samuel F. Berkovic, Wendyl D'Souza, Piero Perucca, Orrin Devinsky, Terence J. O'Brien
Summary: This study aimed to investigate the association between lamotrigine and sudden unexpected death in epilepsy (SUDEP). The retrospective, nested case-control study included 101 SUDEP cases and 199 living epilepsy controls from Australia and the USA. The results showed no increased risk of SUDEP associated with the use of lamotrigine or other sodium channel modulating anti-seizure medications.
Article
Clinical Neurology
Raffaele Dubbioso, Antonio Suppa, Marina A. J. Tijssen, Akio Ikeda
Summary: FAME/BAFME is a high-penetrant autosomal dominant condition characterized by cortical myoclonus and occasional/rare convulsive seizures. Neurophysiological findings suggest that cortical hyperexcitability in FAME/BAFME may be caused by abnormal neuronal network activity involving both cortical and subcortical structures, particularly the cerebellum. Advanced transcranial magnetic stimulation (TMS) protocols could be used to evaluate the functional connectivity between the cerebellum and cortical structures, and non-invasive brain stimulation techniques may be potential therapeutic tools to improve cortical excitability in FAME/BAFME.
Article
Biochemistry & Molecular Biology
Melissa Vos, Christine Klein, Andrew A. Hicks
Summary: Sphingolipids, a subset of bioactive lipids, play a crucial role in proper neuronal function and are involved in almost all biological processes. Recent studies have found alterations in sphingolipids in patients with Parkinson's disease (PD), suggesting an important interaction between sphingolipids and PD-related cellular processes. This article discusses the role of sphingolipids in mitochondrial dysfunction, autophagy defects, and abnormal endosomal activity in PD.
JOURNAL OF MOLECULAR BIOLOGY
(2023)
Article
Psychology
Maraike A. Coenen, Hendriekje Eggink, Martje E. van Egmond, D. L. Marinus Oterdoom, J. Marc C. van Dijk, Teus van Laar, Jacoba M. Spikman, Marina A. J. Tijssen
Summary: Deep brain stimulation (DBS) of the internal globus pallidus (GPi) has been recognized as a treatment for medication-refractory dystonia. This study compares cognition before and after GPi DBS and finds that the impact of DBS on cognitive functioning is limited, with some domains yet to be investigated.
JOURNAL OF NEUROPSYCHOLOGY
(2023)
Letter
Clinical Neurology
Max Borsche, Neringa Pratuseviciute, Susen Schaake, Frauke Hinrichs, Gabriel Morel, Jan Uter, Katja Lohmann, Christine Klein, Dario R. Alessi, Johann Hagenah, Esther Sammler
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Sebastian Loens, Feline Hamami, Katja Lohmann, Thorsten Odorfer, Chi Wang Ip, Simone Zittel, Kirsten E. Zeuner, Judith Everding, Jos Becktepe, Katrin Marth, Friederike Borngraeber, Katja Kollewe, Christoph Kamm, Andrea A. Kuehn, Mathias Gelderblom, Jens Volkmann, Christine Klein, Tobias Baeumer
Summary: This study aims to identify clinical and demographic features associated with heritability of yet idiopathic dystonia. Tremor is associated with an increased risk of familial clustering of dystonia and with a family history of tremor itself. This indicates a hereditable dystonia-tremor syndrome with a clinical spectrum ranging from tremor-predominant diseases to dystonia.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Clinical Neurology
Sattar Khoshkhoo, Yilan Wang, Yasmine Chahine, E. Zeynep Erson-Omay, Stephanie M. Robert, Emre Kiziltug, Eyiyemisi C. Damisah, Carol Nelson-Williams, Guangya Zhu, Wenna Kong, August Yue Huang, Edward Stronge, H. Westley Phillips, Brian H. Chhouk, Sara Bizzotto, Ming Hui Chen, Thiuni N. Adikari, Zimeng Ye, Tom Witkowski, Dulcie Lai, Nadine Lee, Julie Lokan, Ingrid E. Scheffer, Samuel F. Berkovic, Shozeb Haider, Michael S. Hildebrand, Edward Yang, Murat Gunel, Richard P. Lifton, R. Mark Richardson, Ingmar Bluemcke, Sanda Alexandrescu, Anita Huttner, Erin L. Heinzen, Jidong Zhu, Annapurna Poduri, Nihal DeLanerolle, Dennis D. Spencer, Eunjung Alice Lee, Christopher A. Walsh, Kristopher T. Kahle
Summary: This study found pathogenic somatic variants in the hippocampus of patients with drug-resistant temporal lobe epilepsy, suggesting their association with the disease pathogenesis. These findings offer new insights into the genetic mechanisms and potential therapeutic targets for this common type of epilepsy.
Article
Genetics & Heredity
Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett
Summary: Aicardi Syndrome is a rare neurodevelopmental disorder characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile epileptic spasms. Although extensive genetic and genomic investigations have been conducted, no X-linked cause has been found. This study identified unique de novo variants in different genes in 5 out of 10 females with Aicardi Syndrome, suggesting genetic heterogeneity and involvement of molecular pathways related to cortical development.
Article
Clinical Neurology
Tjerk J. Lagrand, Marjolein Brusse-Keizer, Andrew Charmley, Mark J. Edwards, Marina A. J. Tijssen, Alexander C. Lehn
Summary: This study aimed to determine the diagnostic value of the whack-a-mole and swivel chair tests in patients with functional movement disorders. The results showed that both tests had high specificity but low sensitivity.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)