Article
Clinical Neurology
Katherine Nickels, Eric H. Kossoff, Krista Eschbach, Charuta Joshi
Summary: This study presented the largest cohort of patients with EMAS to date, revealing that global developmental delay was present in nearly half of the children during the course of the disease. Most children experienced seizures after the age of 2, with EEG showing abnormal findings in the majority. Diet therapy was found to be significantly more effective than the first-line antiseizure drugs in achieving seizure reduction.
Article
Behavioral Sciences
Roberto H. Caraballo, Gabriela Reyes Valenzuela, Sebastian Fortini, Alberto Espeche, Beatriz Gamboni, Claudia Bautista, Pedro Cachia, Marco Semprino, Adolfo Gallo, Santiago Galicchio
Summary: The efficacy and tolerability of sulthiame as add-on treatment for patients with myoclonic atonic epilepsy were evaluated in this study. It was found that 60% of the patients had a seizure decrease of more than 50% after using sulthiame, with only mild adverse effects.
EPILEPSY & BEHAVIOR
(2022)
Article
Behavioral Sciences
Roberto H. Caraballo, Gabriela Reyes Valenzuela, Sebastian Fortini, Alberto Espeche, Beatriz Gamboni, Walter Silva, Marco Semprino, Lorena Fasulo, Santiago Chacon, Adolfo Gallo, Santiago Galicchio, Pedro Cachia
Summary: This multicenter study evaluated the efficacy and tolerability of add-on CBD in patients with treatment-resistant epilepsy and Sturge Weber syndrome. The results showed that more than half of the patients experienced a >50% reduction in seizure frequency, with some becoming seizure-free. Side effects were mild and did not lead to discontinuation of CBD.
EPILEPSY & BEHAVIOR
(2023)
Article
Clinical Neurology
Hirokazu Oguni, Yoshiko Hirano, Susumu Ito, Aiko Nishikawa, Yui Otani, Satoru Nagata
Summary: The study aimed to investigate ictal vocalizations associated with myoclonic seizures in patients with myoclonic epilepsy in infants (MEI) and epilepsy with myoclonic-atonic seizures (EMAS). Ictal vocalizations were found to be relatively common in EMAS patients, which may aid in the differential diagnosis of epileptic drop attacks.
EPILEPTIC DISORDERS
(2021)
Article
Clinical Neurology
Solange Denervaud, Christian Korff, Joel Fluss, Judith Kalser, Eliane Roulet-Perez, Patric Hagmann, Sebastien Lebon
Summary: The study compared the brain morphometry of children with Epilepsy with myoclonic atonic seizure (EMAS) with healthy subjects, finding structural differences mainly in the frontal lobes and cerebellum. There was a stronger correlation between outcome groups and local gyrification index.
Article
Clinical Neurology
Hirokazu Oguni
Summary: This review proposes updated diagnostic criteria for epilepsy with myoclonic-atonic seizures (EMAS). The criteria emphasize age of onset, seizure types, and specific electroclinical features. The article suggests redefining EMAS as genetic generalized epilepsy, based on recent genetic studies, and highlights the possibility of EMAS evolving into epileptic encephalopathy.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Jun Zhang, Dan Wu, Haoran Yang, Hongjuan Lu, Yichen Ji, Huixin Liu, Zhenxiang Zang, Jie Lu, Wei Sun
Summary: This study found structural brain abnormalities in multiple regions in juvenile myoclonic epilepsy (JME) patients, which were associated with cognitive impairments, and had specific negative correlations with disease duration and abnormal discharges.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Dilsad Turkdogan, Gulten Ozturk
Summary: Clobazam is an effective adjunctive treatment for various epilepsy syndromes, showing good response rates and complete seizure remission in different stages of follow-up. The drug is well tolerated and particularly effective for myoclonic and myoclonic-atonic/atonic seizures in epileptic encephalopathies.
ACTA NEUROLOGICA BELGICA
(2022)
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
Tatsuo Mori, Masamune Sakamoto, Takahiro Tayama, Aya Goji, Yoshihiro Toda, Atsushi Fujita, Takeshi Mizuguchi, Maki Urushihara, Naomichi Matsumoto
Summary: This case report describes a female patient with EMAtS who experienced mild developmental delay before the onset of seizures. The patient was found to have a de novo balanced chromosomal translocation. Treatment with valproic acid effectively controlled the seizures.
BRAIN & DEVELOPMENT
(2023)
Article
Clinical Neurology
Emanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, Alessandra Morano, Antonella H. Riva, Roberto Caraballo, Loretta Giuliano, Tuelay Yilmaz, Eleni F. Panagiotakaki, Francesca Operto, Beatriz Gonzalez Giraldez, Simona Balestrini, Katri Silvennoinen, Sara Casciato, Marion Comajuan, Francesco T. Fortunato, Anna Giallonardo, Rimma Gamirova, Antonietta Coppola, Giancarlo Di Gennaro, Angelo Labate, Vito J. Sofia, Gerhard Kluger, Antonio Gambardella, Dorothee Kasteleijn-Nolst Trenite, Betul M. Baykan, Sanjay Sisodiya, Alexis Arzimanoglou, Pasquale Striano, Carlo Di Bonaventura, EM Study Grp
Summary: Although there is a higher female preponderance in epilepsy with eyelid myoclonia (EEM), no specific study has explored the variability of clinical presentation according to sex in this syndrome. This study aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. The findings reveal sex-specific differences in electroclinical features and prognostic factors, highlighting the importance of a sex-based personalized approach in epilepsy care and research.
Article
Genetics & Heredity
Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Doering, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov, Aneta Karasinska, Maria Gizewska, Wendy Mitchell, Eva Morava, Rikke S. Moller, Guido Rubboli
Summary: This study aimed to describe and expand the phenotypic spectrum of PIGT deficiency in affected individuals, and identify potential genotype-phenotype correlations. The findings suggest that Val528Met and Asn527Ser variants are associated with a milder phenotype and less severe outcome. Further studies will be useful for future genetic counseling and shed light on unknown aspects of this rare disorder.
FRONTIERS IN GENETICS
(2021)
Article
Clinical Neurology
Federico Raviglione, Sofia Douzgou, Marcello Scala, Alessia Mingarelli, Stefano D'Arrigo, Elena Freri, Francesca Darra, Sabrina Giglio, Maria C. Bonaglia, Chiara Pantaleoni, Massimo Mastrangelo, Roberta Epifanio, Maurizio Elia, Veronica Saletti, Silvia Morlino, Maria Stella Vari, Paola De Liso, Julija Pavaine, Luigina Spaccini, Elisa Cattaneo, Elena Gardella, Rikke S. Moller, Francesca Marchese, Clara Colonna, Claudia Gandioli, Giuseppe Gobbi, Dipak Ram, Orazio Palumbo, Massimo Carella, Michele Germano, Davide Tonduti, Diego De Angelis, Davide Caputo, Patrizia Bergonzini, Francesca Novara, Orsetta Zuffardi, Alberto Verrotti, Alessandro Orsini, Alice Bonuccelli, Maria Carmela De Muto, Marina Trivisano, Federico Vigevano, Tiziana Granata, Bernardo Dalla Bernardina, Antonia Tranchina, Pasquale Striano
Summary: Epilepsy is a common manifestation in patients with autosomal dominant intellectual disability syndrome caused by heterozygous variants in MEF2C. The epileptic phenotype of MEF2C syndrome is variable, with febrile seizures and myoclonic seizures being the most frequent, often associated with specific EEG patterns. Haploinsufficiency of ADGRV1, MIR9-2, and LINC00461 may contribute to myoclonic seizures and spasms in MEF2C syndrome patients.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2021)
Article
Clinical Neurology
Eugen Trinka, Taoufik Alsaadi, Hiroko Goji, Taketoshi Maehara, Satoru Takahashi, Julia Jacobs, Rosaria Renna, Francisco Jose Gil-Lopez, Rob McMurray, Ricardo Sainz-Fuertes, Vicente Villanueva
Summary: This study aimed to evaluate the effectiveness and tolerability of PER in the treatment of idiopathic generalized epilepsy under real-world conditions. The results showed that PER had good effectiveness and tolerability in people with idiopathic generalized epilepsy in clinical practice, consistent with clinical trial evidence.
Article
Clinical Neurology
Giuseppe d'Orsi, Andrea Farolfi, Lorenzo Muccioli, Orazio Palumbo, Pietro Palumbo, Sergio Modoni, Vincenzo Allegri, Valentina Garibotto, Maria Teresa Di Claudio, Ester Di Muro, Mario Benvenuto, Francesca Bisulli, Massimo Carella
Summary: The study aims to evaluate the electro-clinical features and laboratory and instrumental correlates of neurodegeneration in order to detect the progression of Lafora disease (LD). The results identify three progressive electro-clinical stages and biomarkers that can help evaluate the efficacy of new disease-modifying treatments.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Guido Rubboli, Pierangelo Veggiotti, Antonella Pini, Angela Berardinelli, Gaetano Cantalupo, Enrico Bertini, Francesco Danilo Tiziano, Adele D'Amico, Elena Piazza, Emanuela Abiusi, Stefania Fiori, Elena Pasini, Francesca Darra, Giuseppe Gobbi, Roberto Michelucci
Article
Clinical Neurology
Carmen Barba, Francesca Darra, Raffaella Cusmai, Elena Procopio, Carlo Dionisi Vici, Liesbeth Keldermans, Sandrine Vuillaumier-Barrot, Dirk J. Lefeber, Renzo Guerrini
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2016)
Article
Clinical Neurology
Marilena Vecchi, Carmen Barba, Debora De Carlo, Micol Stivala, Renzo Guerrini, Emilio Albamonte, Domiziana Ranalli, Domenica Battaglia, Giada Lunardi, Clementina Boniver, Benedetta Piccolo, Francesco Pisani, Gaetano Cantalupo, Giuliana Nieddu, Susanna Casellato, Silvia Cappanera, Elisabetta Cesaroni, Nelia Zamponi, Domenico Serino, Lucia Fusco, Alessandro Iodice, Filippo Palestra, Lucio Giordano, Elena Freri, Ilaria De Giorgi, Francesca Ragona, Tiziana Granata, Isabella Fiocchi, Stefania Maria Bova, Massimo Mastrangelo, Alberto Verrotti, Sara Matricardi, Elena Fontana, Davide Caputo, Francesca Darra, Bernardo Dalla Bernardina, Francesca Beccaria, Giuseppe Capovilla, Maria Pia Baglietto, Alessandra Gagliardi, Aglaia Vignoli, Maria Paola Canevini, Egle Perissinotto, Stefano Francione
Article
Clinical Neurology
Aglaia Vignoli, Francesca Bisulli, Francesca Darra, Massimo Mastrangelo, Carmen Barba, Lucio Giordano, Katherine Turner, Elena Zambrelli, Valentina Chiesa, Stefania Bova, Isabella Fiocchi, Angela Peron, Ilaria Naldi, Giuseppe Milito, Laura Licchetta, Paolo Tinuper, Renzo Guerrini, Bernardo Dalla Bernardina, Maria Paola Canevini
Review
Clinical Neurology
Roberta Opri, Gian Maria Fabrizi, Gaetano Cantalupo, Moreno Ferrarini, Alessandro Simonati, Bernardo Dalla Bernardina, Francesca Darra
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2016)
Article
Clinical Neurology
S. Pellegrin, G. Cantalupo, R. Opri, B. Dalla Bernardina, F. Darra
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2017)
Article
Clinical Neurology
Roberto Caraballo, Francesca Darra, Gabriela Reyes, Marisa Armeno, Araceli Cresta, Graciela Mestre, Bernardo Dalla Bernardina
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2017)
Article
Clinical Neurology
S. Matricardi, F. Darra, A. Spalice, C. Basti, E. Fontana, B. Dalla Bernardina, M. Elia, L. Giordano, P. Accorsi, R. Cusmai, P. De Liso, A. Romeo, F. Ragona, T. Granata, D. Concolino, M. Carotenuto, P. Pavone, D. Pruna, P. Striano, S. Savasta, A. Verrotti
ACTA NEUROLOGICA SCANDINAVICA
(2018)
Article
Clinical Neurology
Pietro Avanzini, Anna Elisabetta Vaudano, Aglaia Vignoli, Andrea Ruggieri, Francesca Benuzzi, Francesca Darra, Massimo Mastrangelo, Bernardo dalla Bernardina, Paolo Frigio Nichelli, Maria Paola Canevini, Stefano Meletti
CLINICAL NEUROPHYSIOLOGY
(2014)
Article
Genetics & Heredity
Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, Laszlo Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Mate, Aliz Zimmermann, Neziha Gouider-Khouja, Enza Maria Valente
ORPHANET JOURNAL OF RARE DISEASES
(2014)
Article
Environmental Sciences
Leonardo Zoccante, Marco Luigi Ciceri, Liliya Chamitava, Gianfranco Di Gennaro, Lucia Cazzoletti, Maria Elisabetta Zanolin, Francesca Darra, Marco Colizzi
Summary: Neurodevelopmental disorders, particularly Autism Spectrum Disorder (ASD), have been found to result in more severe impairments in postural control compared to Attention Deficit Hyperactive Disorder (ADHD) and Tourette Syndrome (TS). Children and adolescents with ASD performed worse in various sensory conditions, while those with ADHD showed poorer performance only in specific conditions. These differences highlight the potential use of postural control as a biomarker for assessing neurodevelopmental risks.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Health Care Sciences & Services
Anna-Maria Costa, Tommaso Lo Barco, Elisabetta Spezia, Valerio Conti, Laura Roli, Lorenza Marini, Sara Minghetti, Elisa Caramaschi, Laura Pietrangelo, Luca Pecoraro, Fabio D'Achille, Paola Accorsi, Tommaso Trenti, Federico Melani, Carla Marini, Renzo Guerrini, Francesca Darra, Patrizia Bergonzini, Giuseppe Biagini
Summary: Children with epilepsy who respond to ASMs have higher ghrelin levels, but these levels are not affected by ASMs. Ghrelin levels are lower in children with generalized epilepsy compared to other types of epilepsy, and the ghrelin-to-DAG ratio is also lower in generalized epilepsies.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Clinical Neurology
Tommaso Lo Barco, Laura Corona, Roberta Solazzi, Elena Fiorini, Giulia Galati, Alberto Cossu, Jacopo Proietti, Stefano Francione, Bernardo Dalla Bernardina, Francesca Darra, Gaetano Cantalupo
EPILEPTIC DISORDERS
(2023)
Review
Clinical Neurology
R. Manara, L. D'Agata, M. C. Rocco, R. Cusmai, E. Freri, L. Pinelli, F. Darra, E. Procopio, R. Mardari, C. Zanus, G. Di Rosa, C. Soddu, M. Severino, M. Ermani, D. Longo, S. Sartori
AMERICAN JOURNAL OF NEURORADIOLOGY
(2017)
Review
Clinical Neurology
R. Manara, M. C. Rocco, L. D'agata, R. Cusmai, E. Freri, L. Giordano, F. Darra, E. Procopio, I. Toldo, C. Peruzzi, R. Vittorini, A. Spalice, C. Fusco, M. Nosadini, D. Longo, S. Sartori
AMERICAN JOURNAL OF NEURORADIOLOGY
(2017)
Article
Clinical Neurology
Ani Gok, Seha Kamil Saygili, Sebuh Kurugoglu, Sema Saltik, Nur Canpolat
Summary: This study examines the occurrence of nephrolithiasis in children with type 1 SMA and identifies hypercalciuria and high urine specific gravity as common risk factors. The study suggests that children with SMA type 1 may have an increased risk of nephrolithiasis compared to the general population.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Glenn S. Rivera, Jesse A. Stokum, Janet Dean, Cristina L. Sadowsky, Allan J. Belzberg, Matthew J. Elrick
Summary: This study evaluated the surgical efficacy of nerve transfer surgery in patients with acute flaccid myelitis (AFM) and found that preoperative clinical and neurophysiological data play a valuable role in preoperative planning and patient selection. The postoperative outcomes demonstrated that nerve transfer surgery is an effective strategy to restore strength.
PEDIATRIC NEUROLOGY
(2024)
Review
Clinical Neurology
Tristan T. Sands, Jennifer N. Gelinas
Summary: This review explores the concept of epileptic encephalopathy (EE) in pediatric epilepsy, discussing the potential impact of epileptic activity on normal brain development and mechanisms underlying cognitive and behavioral impairments. The findings highlight the threat of epileptic activity to normal brain physiology and development.
PEDIATRIC NEUROLOGY
(2024)
Editorial Material
Clinical Neurology
Grace Gombolay, Melissa A. Walker
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Salman Rashid, Monisha Goyal, Kathryn Lalor, Khaled Al-Robaidi, Vivek Shukla, Fazlur Rahman, Manimaran Ramani
Summary: This study investigated the seizure risk in asymptomatic preterm infants with high-grade intraventricular hemorrhage who underwent long-term video electroencephalographic monitoring. The findings showed that approximately 16% of these infants had seizures, and those with seizures were younger and more likely to be remonitored.
PEDIATRIC NEUROLOGY
(2024)
Letter
Clinical Neurology
Bernadeta Zabielska, Natalia Rzewuska, Sergiusz Jozwiak
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Kelly C. Burk, Maki Kaneko, Catherine Quindipan, My H. Vu, Maritza Feliz Cepin, Jonathan D. Santoro, Michele Van Hirtum-Das, Deborah Holder, Gordana Raca
Summary: This study compared the diagnostic yields of chromosomal microarray (CMA) and epilepsy-genes sequencing (EGS) for genetic epilepsy etiologies. It found that EGS had a significantly higher diagnostic yield than CMA, especially for patients with infantile seizure onset and additional neurological findings.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Ursula Thome, Larissa A. Batista, Renata P. Rocha, Vera C. Terra, Ana Paula A. Hamad, Americo C. Sakamoto, Antonio C. Santos, Marcelo Santos, Helio R. Machado
Summary: Rasmussen encephalitis (RE) is a characterized by pharmacoresistant epilepsy and progressive neurological deficits. Surgical disconnection of the affected hemisphere is considered the treatment of choice, although the precise etiology is still unknown. This study reports the clinical, electrographic, and neuroimaging features of children and adolescents who underwent hemispheric surgery (HS) for the treatment of RE.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Michal Tzadok, Rotem Gur-Pollack, Hadar Florh, Yael Michaeli, Tal Gilboa, Mirit Lezinger, Eli Heyman, Veronika Chernuha, Irina Gudis, Andreea Nissenkorn, Tally Lerman-Sagie, Bruria Ben Zeev, Shimrit Uliel-Sibony
Summary: Purified CBD is well-tolerated and effective in reducing seizure frequency in children and young adults with drug-resistant epilepsy.
PEDIATRIC NEUROLOGY
(2024)
Editorial Material
Clinical Neurology
Zimeng Ye, Sufang Lin, Xia Zhao, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Jing Duan, Yi Yao, Lin Li, Li Chen, Dezhi Cao, Zhanqi Hu, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Nicolas J. Abreu, Madeline Chiujdea, Shanshan Liu, Bo Zhang, Sarah J. Spence
Summary: This study found a low completion rate of chromosomal microarray (CMA) testing for patients with autism spectrum disorder (ASD). Provider recommendation and more follow-up visits were associated with CMA completion. Age, intellectual disability or global developmental delay, first-degree relative with ASD, and public insurance were all related to CMA completion. Parental concern and cost/insurance coverage were the most frequently documented barriers.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Wafa Bouchaala, Sirine Laroussi, Yosra Mzid, Imen Maaloul, Olfa Jallouli, Salma Zouari, Sihem Ben Nsir, Zeineb Mnif, Fatma Kammoun, Chahnez Triki
Summary: Moyamoya angiopathy is a rare but serious cerebrovascular disease in children, which may result in arterial ischemic stroke. The clinical and radiological presentations can vary and are often overlooked. Early diagnosis and treatment are crucial.
PEDIATRIC NEUROLOGY
(2024)
Letter
Clinical Neurology
Eline M. C. Hamilton, Pinar Topaloglu, Jigyasha Sinha, Francesco Nicita, Genevieve Bernard, S. Ali Fatemi, Marjo S. van der Knaap
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Muhamad Azamin Anuar, Muhammad'Adil Zainal Abidin, Soo Hong Tan, Cai Fong Yeap, Nor Azni Yahaya
Summary: This study conducted in Malaysia found that most infants with epilepsy can achieve seizure remission. However, poor seizure control and developmental delay are associated with abnormal EEG background and neuroimaging abnormalities.
PEDIATRIC NEUROLOGY
(2024)