Article
Multidisciplinary Sciences
Heun Soh, Kristen Springer, Klarita Doci, Jeremy L. Balsbaugh, Anastasios V. Tzingounis
Summary: KCNQ2 and KCNQ3 channels are associated with neurodevelopmental disorders and are therapeutic targets for neurological and neuropsychiatric diseases. The study reveals that KCNQ2/5 tandems can form functional channels independently of KCNQ3 and KCNQ2 associates with KCNQ5 in the brain even without KCNQ3. This suggests that the composition of KCNQ channels is more diverse than previously recognized.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Clinical Neurology
Arthur Stefanski, Eduardo Perez-Palma, Tobias Bruenger, Ludovica Montanucci, Cornelius Gati, Chiara Kloeckner, Katrine M. Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T. Deng, Angel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M. Bouman, M. J. Hajianpour, Deb K. Pal, Marc Engelen, Eveline E. O. Hagebeuk, Marwan Shinawi, Alexis R. Heidlebaugh, Kathryn Oetjens, Trevor L. Hoffman, Pasquale Striano, Amanda S. Freed, Line Futtrup, Thomas Balslev, Anna Abuli, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B. Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R. Lemke, Jacob Tiller, Amber N. Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S. Moller, Dennis Lal
Summary: Genetic variants in the SLC6A1 gene can cause a broad spectrum of phenotypic diseases by altering the protein function. Through the aggregation of genetic and clinical data, as well as functional data, the study found potential associations between variant positions on the GAT1 3D structure, variant pathogenicity, altered molecular function, and phenotype severity.
Article
Clinical Neurology
Nataliya Di Donato, Renzo Guerrini, Charles J. Billington, A. James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S. Gershon, Tracy S. Gertler, Robert J. Hopkin, Suma Jacob, Sarah K. Keedy, Daniz Kooshavar, Paul J. Lockhart, Dietmar R. Lohmann, Iman G. Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E. Timms, Richard Webster, Mary J. H. Willis, Maha S. Zaki, Joseph G. Gleeson, Richard J. Leventer, William B. Dobyns
Summary: Reelin, encoded by the RELN gene, is critical for brain development and function. Variants in RELN have been associated with various neurodevelopmental disorders, including lissencephaly and potentially schizophrenia. This study provides data on individuals with biallelic and monoallelic RELN variants, expanding the spectrum of associated phenotypes.
Article
Neurosciences
Fu Hung Shiu, Jennifer C. Wong, Takahiro Yamamoto, Trisha Lala, Ryan H. Purcell, Sharon Owino, Dan Zhu, Erwin G. Van Meir, Randy A. Hall, Andrew Escayg
Summary: The adhesion G protein-coupled receptor BAI1/ADGRB1 plays a crucial role in angiogenesis suppression, phagocytosis mediation, and acting as a brain tumor suppressor. It is also involved in dendritic spine and excitatory synapse development and interacts with autism-relevant proteins. Reduced expression of full length Bai1 leads to social behavior deficits, increased seizure susceptibility, delayed growth, reduced brain weight, decreased neuron density, and increased apoptosis during brain development.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Clinical Neurology
Philip K. Ahring, Vivian W. Y. Liao, Elena Gardella, Katrine M. Johannesen, Ilona Krey, Kaja K. Selmer, Barbro F. Stadheim, Hannah Davis, Charlotte Peinhardt, Mahmoud Koko, Rohini K. Coorg, Steffen Syrbe, Astrid Bertsche, Teresa Santiago-Sim, Tue Diemer, Christina D. Fenger, Konrad Platzer, Evan E. Eichler, Holger Lerche, Johannes R. Lemke, Mary Chebib, Rikke S. Moller
Summary: This study identified variants in the GABRD gene that are associated with neurodevelopmental disorders and epilepsy. These variants alter the function of GABA receptors and are closely related to the clinical phenotypes of the affected individuals. The findings suggest that gain-of-function variants lead to symptoms such as neurodevelopmental disorders, epilepsy, and cognitive impairment, while loss-of-function variants are associated with autism spectrum disorder.
Article
Neurosciences
Oliver Davis
Summary: Abnormal chromatin folding is strongly implicated in epilepsy and ASD, potentially involving an imbalance in the number of excitatory-inhibitory neurons. Studies suggest a range of mutations and chromosomal structural abnormalities contribute to this effect.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Pediatrics
Vinod Sharma, Arushi Gahlot Saini, Prahbhjot Malhi, Pratibha Singhi
Summary: The study found that about one-fourth of children with autism spectrum disorders also have epilepsy, with female gender and adverse perinatal events being independent risk factors. Subclinical or isolated EEG abnormalities are associated with abnormal neurological examination.
INDIAN JOURNAL OF PEDIATRICS
(2022)
Article
Neurosciences
Anthony S. Castanza, Sanja Ramirez, Prem P. Tripathi, Ray A. M. Daza, Franck K. Kalume, Jan-Marino Ramirez, Robert F. Hevner
Summary: Human AUTS2 mutations are associated with intellectual disability, autism, epilepsy, and other neurological disorders. By identifying AUTS2 binding partners in neonatal mouse cerebral cortex, it was found that AUTS2 plays a crucial role in regulating RNA transcription. Deletion of AUTS2 isoforms resulted in abnormalities in brain structure and function, indicating its essential role in cerebral cortex and subcortical breathing centers development.
Review
Physiology
Massimo Mantegazza, Sandrine Cestele, William A. Catterall
Summary: Voltage-gated sodium channels play a crucial role in various electrically excitable cells, and mutations in them lead to a wide range of diseases. Mutations affecting periodic paralysis in skeletal muscle were first discovered, providing a foundation for understanding related conditions in the brain.
PHYSIOLOGICAL REVIEWS
(2021)
Article
Pediatrics
Hanna M. Hulshof, Emma M. H. Slot, Maarten Lequin, Delphine Breuillard, Nathalie Boddaert, Sergiusz Jozwiak, Katarzyna Kotulska, Kate Riney, Martha Feucht, Sharon Samueli, Theresa Scholl, Pavel Krsek, Barbora Benova, Kees P. J. Braun, Floor E. Jansen, Rima Nabbout
Summary: Fetal cerebral lesion scores are significantly associated with neurodevelopment and autism spectrum disorder (ASD) at 2 years in children with TSC, but not with epilepsy characteristics.
JOURNAL OF PEDIATRICS
(2021)
Review
Neurosciences
Juliette Vivien, Anass El Azraoui, Cloe Lheraux, Frederic Lanore, Bruno Aouizerate, Cyril Herry, Yann Humeau, Thomas C. M. Bienvenu
Summary: The imbalance between excitation and inhibition in the cerebral cortex is a key theory in the pathophysiology of neuropsychiatric disorders. Varieties of highly specialized GABAergic interneuron types, especially axo-axonic cells, play a crucial role in regulating cortical inhibition and organizing neural network activities. While alterations of axo-axonic cells have been implicated in epilepsy, schizophrenia, and autism spectrum disorder, the evidence for their involvement in disease remains limited to narrative reviews. This systematic review highlights the need for additional research to better understand the role of axo-axonic cells in neuropsychiatric disorders and their impact on cortical dysregulation and pathological states.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Article
Medicine, General & Internal
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven, Christian Malte Bosselmann, Johannes Lemke, Steffen Syrbe, Marjolein Hanna Willemsen, Ulrike Barbara Stefanie Hedrich, Ingo Helbig, Yvonne Weber
Summary: This study investigates the pathomechanism of FGF12-related disorders and demonstrates the regulatory effects of FGF12 on NaV1.2 and NaV1.6. The findings expand the phenotypic spectrum associated with FGF12 variants and provide insights into the underlying mechanism. Precision treatment with sodium channel blockers may be effective for specific FGF12-associated disorders.
Article
Medical Laboratory Technology
Shimeng Chen, Juan Xiong, Baiyu Chen, Ciliu Zhang, Xiaolu Deng, Fang He, Lifen Yang, Chen Chen, Jing Peng, Fei Yin
Summary: This study retrospectively analyzed the clinical characteristics and genetic spectrum of 79 ASD-NDDs patients, and found that 51.3% of the patients received a genetic diagnosis. Most patients had comorbid intellectual disability or global developmental delay, as well as epilepsy. The study also identified novel candidate genes related to ASD.
CLINICA CHIMICA ACTA
(2022)
Article
Clinical Neurology
Kuan-Ru Chen, Tsung Yu, Yueh-Ju Lien, Yen-Yin Chou, Pao-Lin Kuo
Summary: Maternal diabetes during pregnancy, including T1DM, T2DM, and GDM, is associated with an increased risk of some neurodevelopmental disorders (NDDs) in offspring.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Review
Psychology, Multidisciplinary
Alejandro Cano-Villagrasa, Francisco Jose Moya-Faz, Miguel Lopez-Zamora
Summary: The prevalence of comorbidity between epilepsy and Autism Spectrum Disorder (ASD) in children has been increasing. Epilepsy negatively affects the cognitive-linguistic skills of individuals with ASD. This study aims to review the literature and examine the impact of epilepsy on the development of cognitive and linguistic skills in children with ASD.
FRONTIERS IN PSYCHOLOGY
(2023)