Review
Clinical Neurology
Raffaele Falsaperla, Marco Andrea Nicola Saporito, Francesco Pisani, Janette Mailo, Piero Pavone, Martino Ruggieri, Agnese Suppiej, Giovanni Corsello
Summary: This article reviews ocular paroxysmal events in newborns and infants, highlighting the importance of identifying and managing these events. Differentiating between epileptic and nonepileptic events can be challenging, requiring additional testing and thorough follow-up to determine the etiology and prognosis.
PEDIATRIC NEUROLOGY
(2021)
Article
Clinical Neurology
Malgorzata Domagalska-Szopa, Andrzej Szopa, Maria Eugenia Serrano-Gomez, Magdalena Hagner-Derengowska, Jakub Behrendt
Summary: This study investigates the relationship between prenatal, perinatal, and postnatal risk factors for neurodevelopmental impairment and the outcomes of General Movement Assessment in pre-term infants. The results suggest that abnormal general movements not only indicate commonly known factors but also predict the development of motor impairments.
FRONTIERS IN NEUROLOGY
(2022)
Article
Primary Health Care
Jessie J. Wang, Ran D. Goldman
Summary: Shuddering attacks are involuntary movements of the head and upper extremities that occur during normal activities and do not cause loss of consciousness. This benign condition, distinct from epilepsy, does not require medical therapy or antiepileptic medications, as it will naturally decrease in frequency and remit with age.
CANADIAN FAMILY PHYSICIAN
(2021)
Article
Clinical Neurology
Hyo-Jung Kim, JaeHan Park, Ji-Soo Kim
Summary: This review discusses recent advances in the diagnosis and management of Benign Paroxysmal Positional Vertigo (BPPV), including the use of web-based technology and artificial intelligence, as well as the evidence supporting the use of vitamin D supplements for patients with BPPV and subnormal serum vitamin D levels.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Yong-Hyun Lim, Kyunghun Kang, Ho-Won Lee, Ji-Soo Kim, Sung-Hee Kim
Summary: The purpose of this study was to investigate gait changes in BPPV patients and their association with the involved canal or lesion side. The results showed improvements in gait parameters after CRT, including velocity, rhythmicity, and stability of COP distribution. Overall, gait performance improved after the resolution of BPPV.
FRONTIERS IN NEUROLOGY
(2021)
Review
Clinical Neurology
Sara Mosca, Joana Martins, Teresa Temudo
Summary: This article reviews the main types of transient benign paroxysmal movement disorders in infancy, emphasizing the importance of recognition and diagnostic methods.
REVISTA DE NEUROLOGIA
(2022)
Article
Clinical Neurology
Maya Tojima, Takefumi Hitomi, Masao Matsuhashi, Shuichiro Neshige, Kiyohide Usami, Kazuki Oi, Katsuya Kobayashi, Hirofumi Takeyama, Akihiro Shimotake, Ryosuke Takahashi, Akio Ikeda
Summary: BAFME is a rare disease that causes cortical myoclonus with giant somatosensory evoked potentials (SEPs). This study aimed to establish reliable biomarkers, including high-frequency oscillations (HFOs) with giant SEPs, for the diagnosis of BAFME. Results showed that P25-HFOs with giant SEPs could be a potential biomarker for BAFME diagnosis.
MOVEMENT DISORDERS
(2021)
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
Clinical Neurology
Cristina Yabumoto, Midori H. H. Osaki, Gustavo R. R. Gameiro, Suzana Matayoshi, Mauro Campos, Tammy H. H. Osaki
Summary: This study developed a practical tool using a smartphone camera and custom-made software to objectively assess the therapeutic effects of botulinum toxin in blepharospasm patients. The assessment was based on the analysis of spontaneous eyelid movements before and after treatment, and it was found that the treatment significantly reduced the eyelid movement frequency in patients, with no significant difference compared to the control group after treatment. This system enables the objective measurement of the therapeutic effects of botulinum toxin in patients with blepharospasm.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Jae-Myung Kim, Seung-Han Lee, Hyo-Jung Kim, Ji-Soo Kim
Summary: This article discusses the emerging and controversial syndromes of BPPV, as well as atypical nystagmus based on the involved canal and persistent geotropic positional nystagmus. These topics contribute to a better understanding of the pathomechanisms of BPPV and differentiation from central vertigo and nystagmus.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Multidisciplinary Sciences
Aida Ahmed Abdelmaksoud, Dalia Fahim Mohammed Fahim, Shamardan Ezzeldin Sayed Bazeed, Mohamed Farouk Alemam, Zaki Farouk Aref
Summary: Vitamin D deficiency may be related to the development and recurrence of Benign paroxysmal positional vertigo (BPPV).
SCIENTIFIC REPORTS
(2021)
Review
Medicine, Research & Experimental
Babak Karamy, Han Zhang, Jason Archibald
Summary: This systematic review evaluates the success rates of canalith repositioning maneuvers (CRM) in treating patients with bilateral benign paroxysmal positional vertigo (BiBPPV), showing a high success rate of 95.2%. The average number of treatments is 2.9, with a recurrence rate of 19.8%. Treating the more affected side first and treating on separate visits is recommended for better outcomes.
Article
Pediatrics
Kaitlin A. Greene, Vivien Lu, Marta San Luciano, William Qubty, Samantha L. Irwin, Barbara Grimes, Amy A. Gelfand
Summary: The study revealed that BPT can significantly impact the quality of life for children and families, with some children potentially developing migraines or other migraine-related syndromes. Those who exhibit migrainous features during BPT attacks are more likely to develop migraines in the future.
PEDIATRIC RESEARCH
(2021)
Article
Clinical Neurology
Yuan Xing Chen, Han Jun Sun, Xue Tao Mu, Chao Jiang, Hui Bing Wang, Qing Hua Zhang, Yuan Yi Qu, Jian Li, Ling Ling Zhou, Long Zhu Zhao, Ning Yu, Qing Sun
Summary: This study analyzed the clinical characteristics of 6 patients with intracranial tumors who only presented with positional vertigo to avoid misdiagnosis. All patients experienced positional vertigo and accompanying nystagmus induced by changes in head position or posture.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Bernardo Faria Ramos, Renato Cal, Pedro Luiz Mangabeira Albernaz, Francisco Zuma E. Maia
Summary: The Zuma maneuver is discussed as a practical approach for treating lateral semicircular canal BPPV, and it can be used to treat canalithiasis and cupulolithiasis simultaneously.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L. Welch, Paolo C. Colombo, Stephanie M. Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K. Chung, Filippo Del Bene, Marco Tartaglia
Summary: Kinesins are motor proteins involved in intracellular transport, contributing to key cellular processes. Pathogenic variants in kinesin-encoding genes underlie human diseases. Understanding the significance of these variants is important for better understanding the cellular transport system and its relationship with diseases.
HUMAN MOLECULAR GENETICS
(2023)
Article
Clinical Neurology
Sara Matricardi, Sandrine Cestele, Marina Trivisano, Benedetta Kassabian, Nathalie Leroudier, Roberta Vittorini, Margherita Nosadini, Elisabetta Cesaroni, Sabrina Siliquini, Cristina Marinaccio, Francesca Longaretti, Barbara Podesta, Francesca Felicia Operto, Concetta Luisi, Stefano Sartori, Clementina Boniver, Nicola Specchio, Federico Vigevano, Carla Marini, Massimo Mantegazza
Summary: This study aimed to refine the spectrum of SCN1A epileptic disorders beyond DS and GEFS+ and optimize antiseizure management. Nine of the 16 probands had de novo pathogenic variants causing DEE, while seven probands manifested focal epilepsies with mild or no intellectual disability. Sodium channel blockers never worsened seizures, and functional analysis showed a gain of channel function for three representative variants. The study highlights the wide range of SCN1A disorders and the importance of SCN1A testing in pediatric, familial and nonfamilial, focal epilepsies.
Article
Behavioral Sciences
Kim I. Bishop, Peter K. Isquith, Gerard A. Gioia, Kelly G. Knupp, Ingrid E. Scheffer, Rima Nabbout, Nicola Specchio, Joseph Sullivan, Stephane Auvin, J. Helen Cross, Renzo Guerrini, Gail Farfel, Bradley S. Galer, Arnold R. Gammaitoni
Summary: This study aimed to evaluate the association between fenfluramine (FFA) and improvement in everyday executive function (EF) in preschool-aged children with Dravet syndrome (DS). The results showed that the FFA treatment group demonstrated reliable and clinically meaningful improvement in self-control, flexibility, metacognition, and overall executive function. Among the FFA treatment groups, the 0.7 mg/kg/day dosage group showed the most significant improvement.
EPILEPSY & BEHAVIOR
(2023)
Review
Clinical Neurology
Flavio Villani, Vittoria Cianci, Carlo Di Bonaventura, Giancarlo Di Gennaro, Carlo Andrea Galimberti, Renzo Guerrini, Angela La Neve, Oriano Mecarelli, Nicola Pietrafusa, Nicola Specchio, Federico Vigevano, Emilio Perucca
Summary: Cenobamate is a new antiseizure medication used to treat adults with focal-onset seizures. It has low adverse effects and can achieve significant clinical benefits at relatively low doses for many patients.
EXPERT REVIEW OF NEUROTHERAPEUTICS
(2023)
Article
Immunology
Gabriele Monte, Laura Papetti, Michela Ada Noris Ferilli, Fabiana Ursitti, Romina Moavero, Giorgia Sforza, Elena Panella, Samuela Tarantino, Martina Proietti Checchi, Federico Vigevano, Paolo Palma, Massimiliano Valeriani
Summary: This study retrospectively evaluated the safety of SARS-CoV2 vaccination and the short-term outcome of COVID-19 in pediatric patients with acquired demyelinating disorders of the central nervous system. The results showed that most patients experienced mild side effects such as pain at the injection site, and there were no cases of disease relapse. Overall, the data supports the safety of SARS-CoV-2 vaccines in pediatric patients with multiple sclerosis, MOGAD, and NMOSD.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Medicine, General & Internal
Giovanni Falcicchio, Simona Lattanzi, Francesco Negri, Marina de Tommaso, Angela La Neve, Nicola Specchio
Summary: This retrospective study examined the 12-month effectiveness and tolerability of Cenobamate (CNB) in patients with Lennox-Gastaut syndrome (LGS) in real-world practice. The results showed a reduction in seizure frequency and minimal side effects after CNB treatment. These findings suggest that CNB may be a promising therapeutic option for drug-resistant epilepsy associated with LGS.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Neurosciences
Chiara Pepi, Mattia Mercier, Giusy Carfi Pavia, Alessandro de Benedictis, Federico Vigevano, Maria Camilla Rossi-Espagnet, Giovanni Falcicchio, Carlo Efisio Marras, Nicola Specchio, Luca de Palma
Summary: This study used a brain machine learning approach to evaluate the role of inter-hemispheric EEG connectivity in predicting seizure outcome after hemispherotomy. The results showed that pre-surgical EEG features may have the potential to predict epilepsy outcome after hemispherotomy.
Article
Neurosciences
Chiara Pepi, Alessandro De Benedictis, Maria Camilla Rossi-Espagnet, Simona Cappelletti, Martina Da Rold, Giovanni Falcicchio, Federico Vigevano, Carlo Efisio Marras, Nicola Specchio, Luca De Palma
Summary: Hemimegalencephaly (HME) is a rare brain congenital malformation that causes early onset drug-resistant epilepsy. Hemispherotomy is an effective treatment option for HME patients, but the long-term neuropsychological outcomes are variable.
Article
Clinical Neurology
Lorenzo Ricci, Eleonora Tamilia, Mattia Mercier, Chiara Pepi, Giusy Carfi-Pavia, Alessandro De Benedictis, Giovanni Assenza, Vincenzo Di Lazzaro, Federico Vigevano, Nicola Specchio, Luca de Palma
Summary: This study aimed to evaluate whether ictal phase-amplitude coupling (PAC) could be used as a preoperative biomarker for Focal Cortical Dysplasia (FCD) subtypes. It was found that the strength of ictal PAC was significantly higher in patients with FCD type II compared to type I, only on SOZ electrodes. Pre-ictal PAC on SOZ electrodes predicted FCD histopathology with a classification accuracy > 0.9.
CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Clinical Neurology
Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
Summary: This study analyzed the epileptology and imaging features of WWOX-DEE, and investigated genotype-phenotype correlations, particularly with regard to survival. The results showed that biallelic WWOX pathogenic variants cause an early infantile developmental and epileptic encephalopathy syndrome, with focal seizures and epileptic spasms being the most common seizure types. Patients with two null WWOX pathogenic variants have higher mortality risk.
Article
Pharmacology & Pharmacy
Paolo Bonanni, Francesca Ragona, Carlo Fusco, Antonio Gambardella, Francesca Felicia Operto, Lucio Parmeggiani, Stefano Sartori, Nicola Specchio
Summary: This study confirms that using pharmaceutical CBD is more reliable and safe than galenic formulations in patients with DS and LGS, based on expert opinions.
EXPERT OPINION ON PHARMACOTHERAPY
(2023)
Article
Neurosciences
Martina Proietti Checchi, Samuela Tarantino, Fabiana Ursitti, Gabriele Monte, Romina Moavero, Giorgia Sforza, Michela Ada Noris Ferilli, Teresa Grimaldi Capitello, Federico Vigevano, Massimiliano Valeriani, Laura Papetti
Summary: This study aimed to verify the variations in migraine course and psychological aspects in adolescent patients during different phases of the COVID-19 pandemic compared to the months before COVID-19. The results showed a significant increase in the frequency of attacks and use of prophylactic drugs during the second wave of the pandemic, as well as higher levels of anxiety and depression during both COVID periods compared to the pre-COVID months.
Article
Clinical Neurology
Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Serena Residras Collaboration Grp, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini
Summary: We present the Residras registry, a comprehensive resource for Dravet syndrome and other phenotypes related to SCN1A mutations. The registry collects standardized data from pediatric and adult patients in 24 Italian expert centers. The data includes demographic information, clinical outcomes, and mortality rates. The registry has currently enrolled 281 individuals with Dravet syndrome and a confirmed SCN1A mutation, and has observed changes in cognitive function, behavioral disorders, language, and intellectual disability over a 5-year follow-up period. The Residras registry provides valuable data for research, clinical trials, and monitoring the natural history of Dravet syndrome.