Article
Linguistics
Antonio Benitez-Burraco, Koji Hoshi, Elliot Murphy
Summary: This article reviews epilepsy-related aphasias associated with GRIN2A mutations, focusing on acquired childhood epileptic aphasias like Landau-Kleffner syndrome (LKS). Children with LKS exhibit syntactically simplified utterances, severe word finding difficulties, and severe phonological paraphasias in their spontaneous speech. The authors characterize LKS as a neural dysrhythmia and explore the relationship between EEG abnormalities, particularly those occurring during non-rapid eye movement (NREM) sleep as electrical status epilepticus, and sleeping disorders partly caused by GRIN2A mutations. They also discuss the involvement of neural processes such as sharp-wave ripples, sleep spindles, slow oscillations, and cross-frequency couplings in language-related processes that are disturbed in LKS, contributing to the linguistic profile of epileptic aphasias.
JOURNAL OF NEUROLINGUISTICS
(2023)
Article
Clinical Neurology
Debopam Samanta
Summary: Language dysfunction is a common and serious comorbidity of epilepsy. Precision treatments for GRIN2A-related disorders will benefit patients and pave the way for new therapeutic approaches to other NMDAR-linked neurodegenerative and psychiatric diseases.
Article
Clinical Neurology
Yiran Duan, Xuerong Leng, Chunyan Liu, Xiaohong Qi, Liping Zhang, Wenjun Tan, Xiating Zhang, Yuping Wang
Summary: The frequency of ELP4 rs662702 T alleles was higher in IRES patients compared to healthy controls, suggesting a potential association between this genotype and the distribution of rolandic spike sources.
FRONTIERS IN NEUROLOGY
(2021)
Article
Pediatrics
Fiona M. Baumer, Nancy A. McNamara, Anthony L. Fine, Elia Pestana-Knight, Renee A. Shellhaas, Zihuai He, Daniel H. Arndt, William D. Gaillard, Sarah A. Kelley, Margot Nagan, Adam P. Ostendorf, Nilika S. Singhal, Laura Speltz, Kevin E. Chapman
Summary: In the US, benzodiazepines and antiseizure medications are the most common initial therapies prescribed for CSWS, but the study suggests that benzodiazepines and steroids are more effective than antiseizure medications. Treatment choice does not depend on baseline clinical variables, nor correlate with outcomes.
JOURNAL OF PEDIATRICS
(2021)
Article
Behavioral Sciences
Lauren M. Ostrowski, Dhinakaran M. Chinappen, Sally M. Stoyell, Daniel Y. Song, Erin E. Ross, Mark A. Kramer, Britt C. Emerton, Catherine J. Chu
Summary: This study investigated the language development and white matter characteristics in children with self-limited epilepsy with centrotemporal spikes (SeLECTS). The results showed that children with SeLECTS had deficits in language cognition and expression, particularly in those with active SeLECTS. Abnormal white matter was also found in regions associated with language processing. These findings provide evidence of atypical white matter maturation and its impact on language function in children with SeLECTS.
EPILEPSY & BEHAVIOR
(2023)
Article
Clinical Neurology
Alberto Leal
Summary: Encephalopathy with Status Epilepticus during slow Sleep (ESES) is a syndrome where neurocognitive impairment correlates with multifocal Electroencephalography (EEG) spikes abruptly increasing at sleep onset. Research has shown that perinatal thalamic lesions have the potential to induce regional onset of epileptic activity with ESES features in cortex without apparent structural lesion.
CLINICAL NEUROPHYSIOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Zhenhong Li, Hong Ni, Yueying Liu, Fei Li, Haijiang Zeng
Summary: This study investigated the association of VBECT with zinc, MRS, EEG, and IQ tests. The results showed that the patients with VBECT had significantly decreased zinc, MRS, and IQ test results, as well as an upward trend in spinal slow wave results. Linear correlation analysis revealed significant negative correlations between zinc and MRS, EEG, and IQ tests.
Article
Medicine, General & Internal
Ridha Fameen, Rinsha K. Pravin, S. Pooja, V Rashmi, Biraj Bhattarai, B. P. Abhishek
Summary: It is crucial to understand the impact of COVID-19 on children's speech and language skills, as there is a lack of studies in this area. Accurate diagnosis is essential for Speech-Language Pathologists to provide systematic therapy for these children.
CLINICAL CASE REPORTS
(2022)
Article
Clinical Neurology
Regina Trollmann, Ingo Borggraefe, Wolfgang Muller-Felber, Ulrich Brandl
Summary: Developmental and epileptic encephalopathies typically present in infancy and early childhood, with the new ILAE classification providing a more precise definition including electro-clinical phenotype, etiological spectrum, and associated comorbidities. Certain electro-clinical entities can now be classified as specific encephalopathies based on their genotype. EEG remains an important tool in the diagnosis and management of epileptic encephalopathies, particularly for identifying complications and monitoring treatment efficacy.
KLINISCHE NEUROPHYSIOLOGIE
(2021)
Review
Genetics & Heredity
Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster, Joseph J. Shen
Summary: Pathogenic variants in the CNKSR2 gene located on the X chromosome lead to developmental delay and seizures. Patients typically present with epilepsy, developmental delay, loss of speech, and sleep disturbances. Most pathogenic variants are predicted to be loss of function, with potential for better control of symptoms in later childhood.
BMC MEDICAL GENOMICS
(2021)
Article
Clinical Neurology
Zhigang Liu, Xingguang Ye, Jieyan Zhang, Benze Wu, Shiwei Dong, Pingming Gao
Summary: By sequencing patients with Rolandic epilepsy/atypical Rolandic epilepsy, this study identified disease-causing variants in the ADGRV1, GRIN2B, and RyR2 genes, suggesting a potential role of neuronal intracellular calcium homeostasis defects in the pathogenesis of these conditions.
NEUROLOGICAL SCIENCES
(2022)
Article
Behavioral Sciences
Orhan Coskun, Osman Kipoglu, Burcin Nazli Karacabey, Mehmet Akif Kilic, Derya Simsek Ceran, Edibe Pembegul Yildiz, Nur Aydinli, Mine Caliskan
Summary: The study found no significant differences in eating habits between patients with CECTS and healthy controls, including CEBQ scores and BMI.
EPILEPSY & BEHAVIOR
(2021)
Article
Neurosciences
Karagh E. Loring, Tessa Mattiske, Kristie Lee, Aneta Zysk, Matilda R. Jackson, Jeffrey L. Noebels, Cheryl Shoubridge
Summary: In a mouse model, short-term exogenous steroid treatment can reduce the frequency and severity of seizures, but does not improve behavioral deficits.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Behavioral Sciences
Daniel Carvalho, Carla Mendonca, Joao Carvalho, Ana Martins, Alberto Leal
Summary: Continuous Spike-Wave during slow Sleep (CSWS) syndrome is characterized by strong activation of non-REM sleep spikes, leading to clinically significant neurocognitive regression. The mechanisms underlying CSWS are still unknown, although rare perinatal thalamic injuries have been implicated. In this study, we aimed to determine the incidence of such lesions in a cohort of CSWS patients.
EPILEPSY & BEHAVIOR
(2023)
Article
Neurosciences
Mark A. Kramer, Sally M. Stoyell, Dhinakaran Chinappen, Lauren M. Ostrowski, Elizabeth R. Spencer, Amy K. Morgan, Britt Carlson Emerton, Jin Jing, M. Brandon Westover, Uri T. Eden, Robert Stickgold, Dara S. Manoach, Catherine J. Chu
Summary: Childhood epilepsy with centrotemporal spikes (CECTS) is a common focal epilepsy syndrome, with unknown cause. Research shows a focal deficit in sleep spindles during active phase of the disease, an inverse correlation between spindle rate and spike rate, and that spindle rate predicts cognitive task performance. These findings suggest thalamocortical circuit dysfunction in CECTS, providing insights for potential treatment targets.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Diane Doummar, Christel Dentel, Romane Lyautey, Julia Metreau, Boris Keren, Nathalie Drouot, Ludivine Malherbe, Viviane Bouilleret, Jeremie Courraud, Maria Paola Valenti-Hirsch, Lorella Minotti, Blandine Dozieres-Puyravel, Severine Baer, Julia Scholly, Elise Schaefer, Caroline Nava, Thomas Wirth, Hala Nasser, Marie de Salins, Anne de Saint Martin, Marie Therese Abi Warde, Philippe Kahane, Edouard Hirsch, Mathieu Anheim, Sylvie Friant, Jamel Chelly, Cyril Mignot, Gabrielle Rudolf
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Clinical Neurology
Gabrielle Rudolf, Julitta de Bellescize, Anne de Saint Martin, Alexis Arzimanoglou, Maria Paola Valenti Hirsch, Audrey Labalme, Clotilde Boulay, Thomas Simonet, Anne Boland, Jean Francois Deleuze, Patrick Nitschke, Emmanuelle Ollivier, Damien Sanlaville, Edouard Hirsch, Jamel Chelly, Gaetan Lesca
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2020)
Article
Clinical Neurology
Christine Y. Kim, Thomas Wirth, Cecile Hubsch, Andrea H. Nemeth, Volkan Okur, Mathieu Anheim, Nathalie Drouot, Christine Tranchant, Gabrielle Rudolf, Jamel Chelly, Katrina Tatton-Brown, Cornelis Blauwendraat, Jean Paul G. Vonsattel, Etty Cortes, Roy N. Alcalay, Wendy K. Chung
ANNALS OF NEUROLOGY
(2020)
Article
Genetics & Heredity
Fenja Markus, Chloe Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon van Slegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg-Christoph Korenke, John Neidhardt, Marta Owczarek-Lipska
MOLECULAR GENETICS & GENOMIC MEDICINE
(2020)
Letter
Clinical Neurology
Christine Y. Kim, Thomas Wirth, Cecile Hubsch, Andrea H. Nemeth, Volkan Okur, Mathieu Anheim, Nathalie Drouot, Christine Tranchant, Gabrielle Rudolf, Jamel Chelly, Katrina Tatton-Brown, Cornelis Blauwendraat, Jean Paul G. Vonsattel, Etty Cortes, Roy N. Alcalay, Wendy K. Chung
ANNALS OF NEUROLOGY
(2021)
Article
Clinical Neurology
Solveig Montaut, Nadege Diedhiou, Pauline Fahrer, Cecilia Marelli, Benoit Lhermitte, Laura Robelin, Marie Claire Vincent, Lucas Corti, Guillaume Taieb, Odile Gebus, Gabrielle Rudolf, Julien Tarabeux, Nicolas Dondaine, Matthieu Canuet, Marilyne Almeras, Mehdi Benkirane, Lise Larrieu, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Andoni Echaniz-Laguna, Cecile Cauquil, Beatrice Lannes, Jamel Chelly, Mathieu Anheim, Helene Puccio, Christine Tranchant
Summary: CANVAS is a recessively inherited multisystem ataxia associated with RFC1 repeat expansions. In a French cohort, 15 patients with CANVAS phenotype were identified in idiopathic late-onset ataxia cases, but not in MSA-C patients. The study confirms the genetic heterogeneity of CANVAS and suggests searching for RFC1 repeat expansions in unexplained ILOA cases with sensory neuronopathy.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Edouard Hirsch, Jacqueline French, Ingrid E. Scheffer, Alicia Bogacz, Taoufik Alsaadi, Michael R. Sperling, Fatema Abdulla, Sameer M. Zuberi, Eugen Trinka, Nicola Specchio, Ernest Somerville, Pauline Samia, Kate Riney, Rima Nabbout, Satish Jain, Jo M. Wilmshurst, Stephane Auvin, Samuel Wiebe, Emilio Perucca, Solomon L. Moshe, Paolo Tinuper, Elaine C. Wirrell
Summary: This paper aims to define the four syndromes comprising the idiopathic generalized epilepsies (IGEs) and provides updated diagnostic criteria. For patients who do not meet the criteria for these syndromes but have generalized seizure types, a classification is also provided. Recognizing these syndromes as a special grouping helps determine prognosis and treatment implications.
Article
Clinical Neurology
Sameer M. Zuberi, Elaine Wirrell, Elissa Yozawitz, Jo M. Wilmshurst, Nicola Specchio, Kate Riney, Ronit Pressler, Stephane Auvin, Pauline Samia, Edouard Hirsch, Santiago Galicchio, Chahnez Triki, O. Carter Snead, Samuel Wiebe, J. Helen Cross, Paolo Tinuper, Ingrid E. Scheffer, Emilio Perucca, Solomon L. Moshe, Rima Nabbout
Summary: This article proposes a classification and definition of epilepsy syndromes in neonates and infants, aiming to support epilepsy diagnosis and emphasize the importance of classifying epilepsy by syndrome and etiology. The article reports the epidemiology, clinical course, seizure types, EEG, neuroimaging, genetics, and differential diagnosis for each syndrome, and presents self-limited syndromes, developmental and epileptic encephalopathies, and etiology-specific epilepsy syndromes.
Article
Clinical Neurology
Elaine C. Wirrell, Rima Nabbout, Ingrid E. Scheffer, Taoufik Alsaadi, Alicia Bogacz, Jacqueline A. French, Edouard Hirsch, Satish Jain, Sunao Kaneko, Kate Riney, Pauline Samia, O. Carter Snead, Ernest Somerville, Nicola Specchio, Eugen Trinka, Sameer M. Zuberi, Simona Balestrini, Samuel Wiebe, J. Helen Cross, Emilio Perucca, Solomon L. Moshe, Paolo Tinuper
Summary: This paper describes the process of reaching consensus on the classification and definition of epilepsy syndromes by the International League Against Epilepsy (ILAE), as well as providing clinical data templates for each syndrome. The diagnosis of an epilepsy syndrome carries significant implications for prognosis and treatment, and these syndromes often present with age-dependent characteristics and comorbidities.
Article
Clinical Neurology
Kate Riney, Alicia Bogacz, Ernest Somerville, Edouard Hirsch, Rima Nabbout, Ingrid E. Scheffer, Sameer M. Zuberi, Taoufik Alsaadi, Satish Jain, Jacqueline French, Nicola Specchio, Eugen Trinka, Samuel Wiebe, Stephane Auvin, Leonor Cabral-Lim, Ansuya Naidoo, Emilio Perucca, Solomon L. Moshe, Elaine C. Wirrell, Paolo Tinuper
Summary: The goal of this paper is to provide updated diagnostic criteria for epilepsy syndromes with variable age of onset, based on expert consensus. The aim is to aid diagnosis and guide investigations for etiology and treatments for these patients, incorporating advances in genetics, electroencephalography, and imaging.
Letter
Clinical Neurology
Thomas Wirth, Aurelie Meneret, Nathalie Drouot, Gabrielle Rudolf, Ouhaid Lagha Boukbiza, Jamel Chelly, Christine Tranchant, Amelie Piton, Emmanuel Roze, Mathieu Anheim
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amelie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren Marks, Lydie Burglen, Diane Demailly, Phillipe Coubes, Mayte Castro-Jimenez, Sylvie Joriot, Jamal Ghoumid, Jeremie Belin, Jean-Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaetan Poulen, Nadege Calmels, Andrea H. Nemeth, Martin Smith, Angela Barnicoat, Claire Ewenczyk, Aurelie Meneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Beroud, Fernando Acosta, Catherine Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean-Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim
Summary: This study described a mild GNAO1-related phenotype, including adolescent-onset dystonia, expanding the clinical spectrum of this condition.
MOVEMENT DISORDERS
(2022)
Editorial Material
Cardiac & Cardiovascular Systems
S. Fitouchi, L. Jesel, E. Hirsch, H. Marzak
Article
Clinical Neurology
Antonietta Coppola, Raffaele Dubbioso, Claudia Cuccurullo, Laura Licchetta, Mar Carreno, Edouard Hirsch, Leonilda Bilo
Summary: Familial adult myoclonus epilepsy (FAME) is a genetic condition characterized by cortical tremor, myoclonus, and epilepsy. Treatment options are limited to medications that have both antiseizure and antimyoclonic effects. However, these medications have limited effect on myoclonus and cortical tremor, and certain medications are contraindicated. Precision treatment targeting the underlying genetic defect is the ideal option, but not currently available.
Meeting Abstract
Clinical Neurology
T. Wirth, L. L. Mariani, G. Bergant, M. Baulac, M. O. Habert, N. Drouot, E. Ollivier, A. Hodzic, G. O. Rudolf, P. Nitschke, G. A. Rudolf, J. Chelly, C. Tranchant, M. Anheim, E. Roze
MOVEMENT DISORDERS
(2020)