Article
Clinical Neurology
Yue Niu, Pan Gong, Xianru Jiao, Haipo Yang, Zhixian Yang
Summary: The study reviewed the clinical, radiological, and pathological findings of pediatric epilepsy patients with temporal onset focal seizures induced by intermittent photic stimulation. The interictal EEG showed different types of spike and wave discharges, with all patients showing photoparoxysmal response. Follow-up revealed that most patients had controlled seizures, with only one experiencing occasional seizures.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Anna M. Bank, Ruben Kuzniecky, Robert C. Knowlton, Gregory D. Cascino, Graeme Jackson, Heath R. Pardoe
Summary: The study aimed to determine the frequency of MRI-identified potentially epileptogenic structural abnormalities in individuals with newly diagnosed focal epilepsy. The results showed that one in five patients may have causative MRI findings and an additional one in five patients have abnormalities of unknown relationship to epilepsy. This information is crucial for patient counseling, prognostication, and treatment planning.
Article
Genetics & Heredity
Yishu Wang, Jing Peng, Shuwei Bai, Haojun Yu, Hong He, Chunxiang Fan, Yong Hao, Yangtai Guan
Summary: Temporal lobe epilepsy (TLE), the most common form of refractory epilepsy in adults, may require surgery to alleviate seizures. Research suggests that a mutation in the PIK3R2 gene may play a significant role in the development of TLE.
FRONTIERS IN GENETICS
(2021)
Review
Genetics & Heredity
Junji Hu, Xueping Gao, Longchang Chen, Yuling Kan, Zhaoli Du, Shuangqing Xin, Wenkai Ji, Qiang Yu, Lili Cao
Summary: This study reports two rare mutations in the NPRL3 gene associated with focal epilepsy in two unrelated Chinese families. These mutations were identified through whole-exome sequencing and their impact on protein function was predicted through bioinformatics analysis.
FRONTIERS IN GENETICS
(2023)
Article
Neurosciences
Doodipala Samba Reddy, Robert H. Mbilinyi, Sreevidhya Ramakrishnan
Summary: At present, there is no drug therapy available for curing epilepsy. However, recent research has shown the potential of cannabidiol (CBD) in controlling epileptogenesis and reducing seizure burden. CBD can also be used in combination with other antiseizure medications, indicating strong potential as an adjunct therapy.
EXPERIMENTAL NEUROLOGY
(2023)
Review
Psychiatry
Chao Liu, Xiao-Zhi Qiao, Zi-Han Wei, Mi Cao, Zhen-Yu Wu, Yan-Chun Deng
Summary: The pathogenesis of temporal lobe epilepsy (TLE) was originally thought to be acquired, but recent reports have shown a genetic etiology in some families. Eleven different types of familial TLE (FTLE) have been identified, caused by different genes/loci and characterized by distinct features. Understanding the different types of FTLE and their associated clinical characteristics is important for accurate diagnosis and treatment.
WORLD JOURNAL OF PSYCHIATRY
(2022)
Article
Genetics & Heredity
Youzhi Li, Xu Zhao, Shanshan Wang, Ke Xu, Xin Zhao, Shanshan Huang, Suiqiang Zhu
Summary: This study reports a familial focal epilepsy with variable foci in a Chinese family with a mutation in the NPRL3 gene. The findings show decreased expression of NPRL3 and increased expression of downstream molecular P-s6k in peripheral blood cells of the mutation carrier, expanding the understanding of NPRL3-associated epilepsy.
FRONTIERS IN GENETICS
(2021)
Article
Neurosciences
Zhihao Guo, Jiajie Mo, Jianguo Zhang, Wenhan Hu, Chao Zhang, Xiu Wang, Baotian Zhao, Kai Zhang
Summary: This study examined the metabolic network changes in patients with mesial temporal lobe epilepsy (MTLE) with focal to bilateral tonic-clonic seizures (FBTCS) compared to patients without FBTCS. The findings revealed distinct metabolic network abnormalities in MTLE patients with FBTCS, providing insights into the underlying pathophysiology of FBTCS.
Article
Multidisciplinary Sciences
Yue Wang, Peimin Yu, Guoxing Zhu, Xunyi Wu, Ding Ding, Zhen Hong
Summary: Chinese patients with familial focal epilepsy with variable foci (FFEVF) were studied to understand the differences between various NPRL3 variants and their effect on mRNA. Clinical features, as well as mRNA splicing changes, were analyzed.
Article
Clinical Neurology
Christina Cherian, Juan P. Appendino, Setareh Ashtiani, Paolo Federico, Christine P. Molnar, Marina Kerr, Aneal Khan, Ping Yee Billie Au, Karl Martin Klein
Summary: This study reported a KCNT1 family with a wide spectrum of phenotypes, ranging from developmental and epileptic encephalopathy to atypical frontal lobe epilepsy. The findings suggest that pathogenic variants in KCNT1 can be associated with mild epilepsy and should not be excluded during variant interpretation solely based on gene-disease associations.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Ayushe A. Sharma, Rodolphe Nenert, Adam Goodman, Jerzy P. Szaflarski
Summary: This study investigated abnormal brain temperature elevations (T-CRE) in patients with temporal lobe epilepsy (TLE) and found spatial concordance between T-CRE and edema, supporting the use of brain thermometry as a biomarker for identifying seizure-producing tissue.
Article
Clinical Neurology
Elisa Micalizzi, Anna Elisabetta Vaudano, Giada Giovannini, Giulia Turchi, Leandra Giunta, Stefano Meletti
Summary: Patients with temporal lobe epilepsy may present with central apnea as the first clinical manifestation of their seizures, which could be related to alterations in mesial temporal lobe structures, including the amygdala. Monitoring respiratory changes and oxygen saturation in focal seizures is important for identifying the epileptogenic zone and understanding risk factors for seizure-related autonomic changes.
FRONTIERS IN NEUROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Kristina D. Yakovleva, Diana V. Dmitrenko, Iulia S. Panina, Anna A. Usoltseva, Kirill A. Gazenkampf, Olga V. Konovalenko, Elena A. Kantimirova, Maxim A. Novitsky, Regina F. Nasyrova, Natalia A. Shnayder
Summary: This article systematically analyzes the role of miRs in the development of mesial TLE (mTLE) and provides an update on the existing knowledge about the biomarkers of this disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Pia Bernardo, Mauro Budetta, Ferdinando Aliberti, Maria Luisa Carpentieri, Daniele De Brasi, Livio Sorrentino, Carmela Russo, Alessandra D'amico, Giuseppe Cinalli, Claudia Santoro, Antonietta Coppola
Summary: Temporal lobe abnormalities, focal epilepsy, and FGFR3 mutations are found to be associated, suggesting a potential role of FGFR3 in nervous system development and hippocampal formation. The study reports three additional cases of focal epilepsy and temporal lobe malformations in children with FGFR3 gene mutations.
NEUROLOGICAL SCIENCES
(2021)
Article
Neurosciences
Tilo Gschwind, Ayman Zeine, Ivan Raikov, Jeffrey E. Markowitz, Winthrop F. Gillis, Sylwia Felong, Lori L. Isom, Sandeep Robert Datta, Ivan Soltesz
Summary: Epilepsy is a major disorder with a lack of understanding of its impact on behavior. This study uses machine learning-assisted 3D video analysis to uncover hidden behavioral phenotypes in mice with epilepsy and track their changes during epileptogenesis and drug treatment. The results highlight the potential for automated drug testing based on behavioral fingerprints.
Article
Clinical Neurology
Emanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, Antonella Riva, Roberto Horacio Caraballo, Alessandra Morano, Loretta Giuliano, Tulay Yilmaz, Eleni Panagiotakaki, Francesca F. Operto, Beatriz Gonzalez Giraldez, Simona Balestrini, Katri Silvennoinen, Sara Casciato, Marion Comajuan, Francesco Fortunato, Anna Teresa Giallonardo, Rimma Gamirova, Antonietta Coppola, Giancarlo Di Gennaro, Angelo Labate, Vito Sofia, Gerhard Josef Kluger, Antonio Gambardella, Dorothee G. A. Kasteleijn-NolstTrenite, Betul Baykan, Sanjay M. Sisodiya, Alexis Arzimanoglou, Pasquale Striano, Carlo Di Bonaventura
Summary: Based on age at epilepsy onset (AEO), this study identified three subtypes of objective epilepsy with eyelid myoclonia (EEM) and analyzed their distinct clinical features. Early onset EEM was associated with higher rates of intellectual disability, antiseizure medication refractoriness, and psychiatric comorbidities, while late onset EEM had the highest proportion of myoclonia involving body regions other than eyelids and generalized tonic-clonic seizures. Intermediate onset EEM had the lowest observed rate of additional findings. Family history of EEM was more frequent in the subtypes with intermediate and late onset. Patients with body-MYO showed higher rates of migraine and generalized tonic-clonic seizures.
Article
Clinical Neurology
Vincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, Emer O'Connor, Anna Marce-Grau, Reza Maroofian, Pasquale Striano, Federico Zara, Michelle M. Morrow, Adi Reich, Amy Blevins, Julia Sala-Coromina, Andrea Accogli, Sara Fortuna, Marie Alesandrini, P. Y. Billie Au, Nilika Shah Singhal, Benjamin Cogne, Bertrand Isidor, Michael G. Hanna, Alfons Macaya, Dimitri M. Kullmann, Henry Houlden, Roope Mannikko
Summary: Novel mutations in KCNA6 gene were found to be associated with early infantile epileptic phenotypes and neurodevelopmental anomalies. Functional characterization revealed that these mutations affect channel closure and voltage dependence. This study is the first to report the association between de novo variants in KCNA6 and neurological features.
Article
Clinical Neurology
Giuseppe Magro, Stefania Barone, Federico Tosto, Antonio De Martino, Domenico Santange Lo, Lucia Manzo, Angelo Pascarella, Pietro Bruno, Marilisa Pasquale, Antonio Gambardella, Paola Valentino
Summary: This study investigated the occurrence of wearing-off symptoms (WoS) in patients treated with Natalizumab using an extended interval dosing (ExID) compared to standard interval dosing (StID). The results showed no significant difference in the prevalence of WoS between the ExID and StID groups, but WoS was strongly correlated with higher EDSS and FSS. The safety and efficacy of Natalizumab with ExID were relatively preserved in this cohort of patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Andreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, Allan Bayat, Marya Bobylova, Paolo Bonanni, Berten Ceulemans, Antonietta Coppola, Carlo Di Bonaventura, Martha Feucht, Anne Fuchs, Gudrun Groeppel, Gali Heimer, Brigitte Herdt, Sviatlana Kulikova, Konstantin Mukhin, Stefania Nicassio, Alessandro Orsini, Maria Panagiotou, Milka Pringsheim, Burkhard Puest, Olga Pylaeva, Georgia Ramantani, Maria Tsekoura, Paolo Ricciardelli, Tally Lerman Sagie, Brigit Stark, Pasquale Striano, Andreas van Baalen, Matthias De Wachter, Emanuele Cerulli Irelli, Claudia Cuccurullo, Celina von Stuelpnagel, Angelo Russo
Summary: A study involving 137 patients with different genetic epilepsies showed that perampanel had high efficacy in treating rare genetic epilepsies, especially in genes such as SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, CDKL5, NEU1, and POLG. This suggests a targeted effect of perampanel related to glutamate transmission in these patients, demonstrating good safety and efficacy.
Correction
Pharmacology & Pharmacy
Gianluca Dini, Eleonora Tulli, Giovanni Battista Dell'Isola, Elisabetta Mencaroni, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti
FRONTIERS IN PHARMACOLOGY
(2023)
Review
Genetics & Heredity
Giovanni Falcicchio, Antonella Riva, Angela La Neve, Michele Iacomino, Patrizia Lastella, Patrizia Suppressa, Vittorio Sciruicchio, Maria Trojano, Pasquale Striano
Summary: This case report describes a male patient with malformations of cortical development, characterized by polymicrogyria in the occipital and temporal lobes bilaterally. Exome sequencing identified a novel stop-gain variant in the LAMC3 gene. This case highlights the phenotypic heterogeneity associated with genetic variants and the unexpected involvement of different brain regions.
FRONTIERS IN GENETICS
(2023)
Article
Clinical Neurology
Maria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, Deborah Puzo, Allan Bayat, Saskia B. Wortmann, Johannes Koch, Vincent Strehlow, Kentaro Shirai, Naomichi Matsumoto, Stephan J. Sanders, Vincent Michaud, Marine Legendre, Antonella Riva, Pasquale Striano, Hiltrud Muhle, Manuela Pendziwiat, Gaetan Lesca, Giuseppe Donato Mangano, Rosaria Nardello, Johannes R. Lemke, Rikke S. Moller, Maria Virginia Soldovieri, Guido Rubboli, Maurizio Taglialatela
Summary: This study describes the phenotypic and genetic features of patients with KCNT2-related developmental epileptic encephalopathy (DEE), and investigates the functional and pharmacological properties of KCNT2 channels carrying novel or previously untested variants. The results expand the phenotypic and genotypic spectrum of KCNT2-related disorders, and highlight the need for targeted therapies based on the molecular phenotype.
ANNALS OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Antonella Riva, Michele Iacomino, Chiara Piccardo, Laura Franceschetti, Rossella Franchini, Alessandra Baroni, Carlo Minetti, Giovanni Bisello, Federico Zara, Marcello Scala, Pasquale Striano, Mariarita Bertoldi
Summary: AADC deficiency is a rare genetic disorder characterized by developmental delay, hypotonia, and oculogyric crises. Through genetic screening, we identified DDC gene mutations in two patients with different clinical manifestations. This study improves the accuracy of AADC deficiency diagnosis and holds significance for patient management.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Gianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotovic, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barisic, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petkovic Ramadza, Ivo Baric, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Riviere, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Summary: The CNTNAP2 gene encodes CASPR2, a presynaptic type 1 transmembrane protein, involved in cell-cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with Pitt-Hopkins-like syndrome-1, while the pathogenic role of heterozygous variants remains controversial. In this study, 22 novel patients with CNTNAP2 variants were identified, and a genotype-phenotype correlation was characterized. The presence of biallelic variants was significantly associated with global developmental delay, epilepsy, hyporeflexia, autism spectrum disorder, language impairment, and severe cognitive impairment.
Review
Genetics & Heredity
Adam Strzelczyk, Sameer M. M. Zuberi, Pasquale Striano, Felix Rosenow, Susanne Schubert-Bast
Summary: This study conducted a systematic literature review on the burden of illness in Lennox-Gastaut syndrome (LGS), finding that LGS patients suffer from drug-resistant epilepsy and cognitive dysfunction. The research on the epidemiology, treatment costs, and patient quality of life in LGS is limited, indicating a need for further investigation.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Genetics & Heredity
Costanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, Nardo Nardocci, Tiziana Granata, Francesca Ragona, Ludovica Pasca, Martina Maria Mensi, Renato Borgatti, Sara Olivotto, Roberto Previtali, Antonella Riva, Maria Margherita Mancardi, Pasquale Striano, Mara Cavallin, Renzo Guerrini, Francesca Felicia Operto, Alice Pizzolato, Ruggero Di Maulo, Fabiola Martino, Andrea Lodi, Carla Marini
Summary: This study describes the implementation of a national web-based registry for GLUT1-DS, which provides real-world data on the disease. Data from 67 patients were collected, revealing that most patients experienced symptoms within the first year of life and the majority are currently undergoing Ketogenic dietary treatment.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Review
Clinical Neurology
Payam Tabaee Damavandi, Natalia Fabin, Riccardo Giossi, Sara Matricardi, Cinzia Del Giovane, Pasquale Striano, Stefano Meletti, Francesco Brigo, Eugen Trinka, Simona Lattanzi
Summary: This systematic review assessed the efficacy and safety of Fenfluramine (FFA) for the treatment of seizures in patients with epilepsy. The results showed that FFA significantly reduces seizure frequency in patients with Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS), but is also associated with adverse events such as decreased appetite, diarrhea, fatigue, and weight loss.
NEUROLOGY AND THERAPY
(2023)
Article
Clinical Neurology
Silvana Franceschetti, Elisa Visani, Ferruccio Panzica, Antonietta Coppola, Pasquale Striano, Laura Canafoglia
Summary: This study aimed to identify suitable measures to explain the different severity of Familial Adult Myoclonic Epilepsy (FAME) compared to Progressive Myoclonic Epilepsy (PMEs) and detect the signature of the distinctive brain networks. The results showed that FAME2 patients had better localized CMC and increased betweenness-centrality (BC) compared to EPM1 patients, which played a role in improving and spreading myoclonus. Additionally, the brain network impairments were more severe in FAME2 patients.
CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Clinical Neurology
Emanuele Cerulli Irelli, Joanna Gesche, Sophie Schlabitz, Francesco Fortunato, Cecilia Catania, Alessandra Morano, Angelo Labate, Bernd J. Vorderwuelbecke, Antonio Gambardella, Betuel Baykan, Martin Holtkamp, Carlo Di Bonaventura, Christoph P. Beier
Summary: This multicenter retrospective study investigated the electroclinical features, seizure outcome, and antiseizure medication withdrawal in a large cohort of GTCA patients. The study found a low rate of drug resistance and a high prevalence of early response to treatment in GTCA patients.
Article
Law
Klaus Rose, Jane M. Grant-Kels, Pasquale Striano, Tanjinatus Oishi, David Neubauer, Earl B. Ettienne
Summary: A new type of research is being conducted that requests separate clinical studies for vaccines and drugs in minors under 18 years of age, in accordance with pediatric laws in the United States and European Union. However, these studies may be pointless as minors often mature before their 18th birthday and are not significantly different from adults physiologically.
JOURNAL OF LAW AND MEDICINE
(2023)