Article
Clinical Neurology
Dana Marafi, Jawid M. Fatih, Rauan Kaiyrzhanov, Matteo P. Ferla, Charul Gijavanekar, Aljazi Al-Maraghi, Ning Liu, Emily Sites, Hessa S. Alsaif, Mohammad Al-Owain, Mohamed Zakkariah, Ehab El-Anany, Ulviyya Guliyeva, Sughra Guliyeva, Colette Gaba, Ateeq Haseeb, Amal M. Alhashem, Enam Danish, Vasiliki Karageorgou, Christian Beetz, Alaa A. Subhi, Sureni Mullegama, Erin Torti, Monisha Sebastin, Margo Sheck Breilyn, Susan Duberstein, Mohamed S. Abdel-Hamid, Tadahiro Mitani, Haowei Du, Jill A. Rosenfeld, Shalini N. Jhangiani, Zeynep Coban Akdemir, Richard A. Gibbs, Jenny C. Taylor, Khalid A. Fakhro, Jill Hunter, Davut Pehlivan, Maha S. Zaki, Joseph G. Gleeson, Reza Maroofian, Henry Houlden, Jennifer E. Posey, V. Reid Sutton, Fowzan S. Alkuraya, Sarah H. Elsea, James R. Lupski
Summary: SLC38A3 is a novel disease gene for developmental and epileptic encephalopathy, and the likely pathophysiology of the disease is perturbations in glutamine homeostasis.
Article
Dermatology
B. Vona, D. A. Schwartzbaum, A. A. Rodriguez, S. S. Lewis, M. B. Toosi, P. Radhakrishnan, N. Bozan, R. Akin, M. Doosti, R. Manju, D. Duman, C. J. Sineni, S. Nampoothiri, E. G. Karimiani, H. Houlden, G. Bademci, M. Tekin, K. M. Girisha, R. Maroofian, S. Douzgou
Summary: This study describes the genotypic and clinical spectrum of biallelic KITLG variants, expanding the known hypomelanosis spectrum and providing evidence of clinical variability similar to KIT-related piebaldism.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Genetics & Heredity
Shereen G. Ghosh, Sangmoon Lee, Rudy Fabunan, Guoliang Chai, Maha S. Zaki, Ghada Abdel-Salam, Tipu Sultan, Tawfeg Ben-Omran, Javeria Raza Alvi, Jennifer McEvoy-Venneri, Valentina Stanley, Aakash Patel, Danica Ross, Jeffrey Ding, Mohit Jain, Daqiang Pan, Philipp Luebbert, Bernd Kammerer, Nils Wiedemann, Nanda M. Verhoeven-Duif, Judith J. Jans, David Murphy, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Khalid Ibrahim, Elizabeth R. Waters, Reza Maroofian, Joseph G. Gleeson
Summary: The study reveals that mutations in HPDL are associated with a unique neurometabolic mitochondrial infantile neurodegenerative condition in humans, based on evidence of apoptosis in cellular lineages and metabolic profiling.
GENETICS IN MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Arthur Macha, Filip Liebsch, Steffen Fricke, Florian Hetsch, Franziska Neuser, Lena Johannes, Vanessa Kress, Tania Djemie, Jose A. Santamaria-Araujo, Catheline Vilain, Alec Aeby, Patrick Van Bogaert, Borislav Dejanovic, Sarah Weckhuysen, Jochen C. Meier, Guenter Schwarz
Summary: Synaptic inhibition plays a crucial role in neuronal network dynamics, and abnormalities in inhibition are associated with epilepsy. Gephyrin, as the principal scaffolding protein at inhibitory synapses, is essential for the clustering of glycine and GABA type A receptors. Mutations in the gephyrin gene (GPHN) are linked to neurodevelopmental disorders and epilepsy. This study identifies bi-allelic variants in GPHN, including a missense mutation and a splice acceptor variant, in a patient with developmental and epileptic encephalopathy. The findings demonstrate that these variants lead to aberrant gephyrin structure and reduced inhibitory signal transmission in neurons.
HUMAN MOLECULAR GENETICS
(2022)
Article
Genetics & Heredity
Reza Maroofian, Jiri Sedmik, Neda Mazaheri, Marcello Scala, Maha S. Zaki, Liam P. Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A. O'Connell, Henry Houlden
Summary: In this study, three children with severe developmental and epileptic encephalopathy (DEE) from two consanguineous families were found to have mutations in the ADARB1 gene, causing impaired ADAR2 enzymatic activity and splicing, leading to a distinctive form of DEE. This supports the importance of RNA editing in brain function and development, highlighting the pathogenic role of biallelic ADARB1 variants in neurodevelopmental disorders.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Biochemistry & Molecular Biology
A. Arteche-Lopez, MI. Alvarez-Mora, MT. Sanchez Calvin, JM. Lezana Rosales, C. Palma Milla, M. J. Gomez Rodriguez, I. Gomez Manjon, A. Blazquez, A. Juarez Rufian, P. Ramos Gomez, O. Sierra Tomillo, I. Hidalgo Mayoral, R. Perez de la Fuente, IJ. Posada Rodriguez, LI. Gonzalez Granado, Miguel A. Martin, JF. Quesada-Espinosa, M. Moreno-Garcia
Summary: This study identified families with co-dominant or recessive inheritance in genes previously associated with dominant inheritance, showing more severe or different phenotypes than their dominant counterparts. Patients harbored homozygous disease-related variants in three genes, resulting in a more severe clinical phenotype. It is suggested that geneticists should be aware of different forms of inheritance in genes to improve WES diagnostic capacity.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Shereen G. Ghosh, Martin W. Breuss, Zinayida Schlachetzki, Guoliang Chai, Danica Ross, Valentina Stanley, F. Mujgan Sonmez, Haluk Topaloglu, Maha S. Zaki, Heba Hosny, Shaimaa Gad, Joseph G. Gleeson
Summary: HEAT repeats are flexible tandem repeat structural motifs found in a variety of eukaryotic proteins, serving as scaffolds at protein interaction sites. Loss of HEATR5B due to genetic mutations may be associated with pontocerebellar hypoplasia, characterized by neonatal seizures, severe intellectual disability, and motor delay.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Al-Hassnan, Abdullah Alwadai, Giovanni Zifarelli, Ehsan G. Karimiani, Sahar Sedighzadeh, Amir Bahreini, Nayereh Nouri, Merlene Peter, Kyoko Watanabe, Hermine A. van Duyvenvoorde, Claudia A. L. Ruivenkamp, Aalbertine K. K. Teunissen, Arend D. J. Ten Harkel, Sjoerd G. van Duinen, Monique C. Haak, Carlos E. Prada, Gijs W. E. Santen, Reza Maroofian
Summary: This study identified biallelic loss-of-function variants in LDB3 gene in unrelated families with an early-onset severe phenotype of cardiomyopathy and myopathy, suggesting a loss of function mechanism.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biotechnology & Applied Microbiology
Xiao Shi, Hao Geng, Hui Yu, Xiaolong Hu, Guanxiong Wang, Jin Yang, Hui Zhao
Summary: This study identified CCDC39 gene variants in two Chinese PCD patients, with one female patient carrying a homozygous variant and one male patient carrying compound heterozygous variants. Both patients exhibited typical PCD symptoms, with the male patient also showing multiple morphological abnormalities of sperm flagella and significantly lower CCDC39 protein levels in sperm.
BIOMED RESEARCH INTERNATIONAL
(2022)
Article
Biotechnology & Applied Microbiology
Xiao Shi, Hao Geng, Hui Yu, Xiaolong Hu, Guanxiong Wang, Jin Yang, Hui Zhao
Summary: In this study, a homozygous CCDC39 variant in a female proband and two compound heterozygous CCDC39 variants in a male proband were identified, expanding the variant spectrum of Chinese PCD, Kartagener syndrome, and morphological abnormalities of the sperm flagella involving CCDC39. The two probands displayed typical PCD phenotypes, with the male proband also exhibiting oligoasthenoteratospermia. Additionally, lower CCDC39 protein levels were found in the sperm of the male proband compared to normal controls.
BIOMED RESEARCH INTERNATIONAL
(2022)
Article
Genetics & Heredity
Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D. Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati, Reza Shervin Badv, Ivan Shelihan, Hui Yang, Houda Zghal Elloumi, Sukyeong Lee, Yalda Jamshidi, Alan M. Pittman, Henry Houlden, Erika Ignatius, Shamima Rahman, Reza Maroofian, Wan Hee Yoon, Christopher J. Carrol
Summary: This study aimed to identify the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. Through clinical characterization and genetic analysis, the researchers identified three novel homozygous variants in the OGDH gene. Functional studies demonstrated that these variants interfered with the structure and function of the OGDH protein, leading to the observed neurodevelopmental disorder. This research highlights the importance of studying genetic causes of neurodevelopmental disorders for understanding their underlying mechanisms and developing targeted therapies.
GENETICS IN MEDICINE
(2023)
Article
Cell & Tissue Engineering
Ling Zhou, Han Xu, Ye Wu, Fang Fang
Summary: In this study, induced pluripotent stem cells (iPSCs) were generated from a five-year-old boy with CAD deficiency, who presented with developmental delay, refractory epilepsy, anemia with anisopoikilocytosis, and dramatic responsiveness to oral uridine supplementation. These iPSCs exhibited stable amplification, expressed pluripotent markers, and spontaneously differentiated into three germ layers in vitro.
STEM CELL RESEARCH
(2022)
Article
Environmental Sciences
Li Zhou, Susu Wang, Lina Cao, Xiangmei Ren, Yuanhong Li, Jihong Shao, Lichun Xu
Summary: This study investigated the cytotoxicity of lead acetate on TM3 Leydig cells and the apoptotic signaling pathway. The results showed that lead significantly reduced cell proliferation, increased apoptosis, and upregulated PPAR gamma expression and cleavage of caspase-3 and PARP. Pretreatment with a PPAR gamma antagonist attenuated the apoptosis induced by lead.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL HEALTH RESEARCH
(2021)
Article
Medicine, Research & Experimental
Evans Raballah, Samuel B. Anyona, Qiuying Cheng, Elly O. Munde, Ivy-Foo Hurwitz, Clinton Onyango, Caroline Ndege, Nicolas W. Hengartner, Maria Andreina Pacheco, Ananias A. Escalante, Christophe G. Lambert, Collins Ouma, Henri C. Jr T. Obama, Kristan A. Scheider, Philip D. Seidenberg, Benjamin H. McMahon, Douglas J. Perkins
Summary: The study explored the relationship between C3 missense mutations and severe malarial anemia (SMA) in children exposed to intense Plasmodium falciparum transmission. The findings showed that specific mutations in the MGI and thioester-containing domain of C3 influenced the longitudinal risk of malaria and SMA in children. The study suggested that certain genetic variations may play a role in predisposing children to severe malarial anemia and malaria in high transmission areas.
EXPERIMENTAL BIOLOGY AND MEDICINE
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Kiran Hilal, Kumail Khandwala, Saima Rashid, Faheemullah Khan, Shayan Sirat Maheen Anwar
Summary: pLMCE is relatively common in pediatric patients undergoing enhanced brain MRI under sedation with sevoflurane. There is substantial agreement between radiologists in detecting pLMCE on post-contrast MRI imaging.
WORLD JOURNAL OF RADIOLOGY
(2023)
Review
Clinical Neurology
Francesca Magrinelli, Kailash P. Bhatia, Mehran Beiraghi Toosi, Fatemeh Arab, Ehsan Ghayoor Karimiani, Sahar Sedighzadeh, Behnaz Ansari, Maedeh Neshatdoust, Clarissa Rocca, Henry Houlden, Reza Maroofian
Summary: This article reports a new phenotype of childhood-onset choreo-dystonia in four patients from two unrelated Iranian pedigrees, who harbor a novel pathogenic variant in the HPCA gene. A systematic review of the literature reveals that HPCA-related dystonia can present as an isolated condition or in combination with various symptoms. Most cases show a poor or no response to common antidystonic medications.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
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
Stephanie Dooves, Liza M. L. Kok, Dwayne B. Holmes, Nicole Breeuwsma, Marjolein Breur, Marianna Bugiani, Nicole Wolf, Vivi M. Heine
Summary: Using iPSC-derived cultures, researchers found reduced ARX expression, increased neuronal network activity, and altered development of interneurons-particularly parvalbumin lineage-in patients with 4H leukodystrophy, a rare white matter disorder. 4H is a rare genetic disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. The discovery of the role of RNA polymerase III mutations in 4H has expanded the understanding of the disease beyond its classic phenotype. This study's importance rating is 8 out of 10.
Article
Genetics & Heredity
Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O'Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonniere, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Bela Melegh, Andras Szabo, Katalin Sumegi, Mireille Cossee, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden
Summary: The purpose of this study was to understand the phenotypic spectrum of SPTAN1 variants. It was found that SPTAN1 variants were significantly enriched in families with hereditary ataxia or hereditary spastic paraplegia. A total of 31 individuals with SPTAN1 variants were identified, with 10 patients presenting with pure or complex HSP/HA and the remaining 21 patients having developmental delay and seizures. Fibroblasts derived from two patients showed irregular alpha II-spectrin aggregation.
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D. Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati, Reza Shervin Badv, Ivan Shelihan, Hui Yang, Houda Zghal Elloumi, Sukyeong Lee, Yalda Jamshidi, Alan M. Pittman, Henry Houlden, Erika Ignatius, Shamima Rahman, Reza Maroofian, Wan Hee Yoon, Christopher J. Carrol
Summary: This study aimed to identify the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. Through clinical characterization and genetic analysis, the researchers identified three novel homozygous variants in the OGDH gene. Functional studies demonstrated that these variants interfered with the structure and function of the OGDH protein, leading to the observed neurodevelopmental disorder. This research highlights the importance of studying genetic causes of neurodevelopmental disorders for understanding their underlying mechanisms and developing targeted therapies.
GENETICS IN MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Sebastian Ludwig, Niklas Schofer, Mohamed Abdel-Wahab, Marina Urena, Guillaume Jean, Matthias Renker, Christian W. Hamm, Holger Thiele, Bernard Iung, Joris F. Ooms, Maya Wiessman, Nils S. B. Mogensen, Benjamin Longere, Nils Perrin, Walid Ben Ali, Augustin Coisne, Jordi S. Dahl, Nicolas M. Van Mieghem, Ran Kornowski, Won-Keun Kim, Marie-Annick Clavel
Summary: This study aimed to assess the outcomes of patients with nonsevere aortic stenosis (AS) and heart failure undergoing transcatheter aortic valve replacement (TAVR) or medical management. The results showed that TAVR was a major predictor of superior survival compared with medical management. These findings highlight the need for randomized-controlled trials comparing TAVR versus medical management in heart failure patients with nonsevere AS.
CIRCULATION-CARDIOVASCULAR INTERVENTIONS
(2023)
Review
Clinical Neurology
Gianluca Dini, Giovanni Battista Dell'isola, Elisabetta Mencaroni, Pietro Ferrara, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti
Summary: Despite advances in neuroimaging and genetics, electroencephalography (EEG) remains important for epilepsy diagnosis and management. Pharmaco-EEG is a sensitive technique for detecting drug effects on brain functioning and has potential in predicting the efficacy and tolerability of anti-seizure medications (ASMs).
EXPERT REVIEW OF NEUROTHERAPEUTICS
(2023)
Article
Genetics & Heredity
Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmueller, Peter Nuernberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Goekhan Yigit
Summary: This study reports five patients from three families with a disorder characterized by congenital joint contractures affecting multiple body parts, including shoulder, elbow, hand, hip, knee, and foot, as well as scoliosis, reduced palmar and plantar skin folds, microcephaly, and facial dysmorphism. Exome sequencing identified homozygous truncating variants in the FILIP1 gene in all patients. FILIP1 is involved in the regulation of filamin homeostasis and is essential for cortical cell migration and muscle cell differentiation.
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.
Article
Pediatrics
Mahmoud Mohammadi, Reza Shervin Badv, Gholam Reza Zamani, Mahmoud Reza Ashrafi, Morteza Heidari, Zahra Rezaei, Mehran Beiraghi Toosi, Mahmoud Reza Zinatzadeh, Homa Ghabeli, Roya Haghighi, Elham Pourbakhtyaran
Summary: During the COVID-19 pandemic, virtual education has played an important role in providing educational programs. This study compared the effects of in-person and virtual electroencephalography (EEG) training on the knowledge of pediatric and adult neurology residents. The results showed that both in-person and virtual workshops significantly improved participants' knowledge and satisfaction, with no significant difference between the two methods.
IRANIAN JOURNAL OF PEDIATRICS
(2023)
Article
Clinical Neurology
Lucas Bastian Amedick, Pascal Martin, Judith Beschle, Manuel Stroelin, Marko Wilke, Nicole Wolf, Petra Pouwels, Gisela Hagberg, Uwe Klose, Thomas Naegele, Ingeborg Kraegeloh-Mann, Samuel Groeschel
Summary: Routine MR diffusion tensor imaging can provide valuable information for assessing the prognosis and progression of MLD, in addition to established methods such as T2 hyperintensity.
Review
Cell Biology
Claudia Cuccurullo, Pasquale Striano, Antonietta Coppola
Summary: Familial adult myoclonus epilepsy (FAME) is a non-coding repeat expansion disorder that is associated with expansions of pentanucleotide repeats in different genes. FAME is characterized by cortical tremor and myoclonus, with infrequent seizures. The underlying mechanism of FAME is thought to involve decreased sensorimotor cortical inhibition and dysfunction of the cerebellar-thalamic-cortical loop.
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)