Results 171 to 180 of about 28,691 (244)

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

A hierarchy of PDZ domain scaffolding proteins clusters the Kv1 K⁺ channel protein complex at the axon initial segment. [PDF]

Sci Adv
Zhang W, Palfini VL, Wu Y, Ding X, Melton AJ, Gao Y, Ogawa Y, Rasband MN.   +7 more
europepmc   +1 more source

Compensatory rearrangement of parvalbumin interneuron voltage‐gated sodium channel subunits in a mouse model of Dravet syndrome

Epilepsia, EarlyView.
Abstract Heterozygous loss‐of‐function variants in the gene SCN1A, which encodes the voltage‐gated sodium channel (VGSC) pore‐forming (α) subunit NaV1.1, lead to a spectrum of neurological disease, including Dravet syndrome. NaV1.1 is prominently expressed at the proximal portion of the axon initial segment (AIS) of fast‐spiking γ‐aminobutyric ...
Ania K. Dabrowski, Ala Somarowthu, Sophie R. Liebergall, Damaris N. Lorenzo, Ethan M. Goldberg   +4 more
wiley   +1 more source

Axon initial segment plasticity caused by auditory deprivation degrades time difference sensitivity in a model of neural responses to cochlear implants. [PDF]

J Comput Neurosci
Jing A, Xi S, Fransazov I, Goldwyn JH.
europepmc   +1 more source

Anterior cingulate cortex neuron subtypes differentially regulate seizures

Epilepsia, EarlyView.
Abstract Objective This study aimed to investigate the regulatory roles of distinct neuronal subtypes within the anterior cingulate cortex (ACC) in acute seizures and to identify cell type‐specific mechanisms underlying seizure modulation in this region. Methods Acute seizure models were established in mice via pentylenetetrazol injection.
Ziqian Yan, Ting Tang, Kaishan Wang, Bin Fu, Zesheng Li, Mingshan Liu, Hongyi Huang, Yanfeng Yang, Qiang Zheng, Yangmin Zheng, Yongzhi Shan, Yumin Luo, Guoguang Zhao   +12 more
wiley   +1 more source

TRIM46 Is Required for Microtubule Fasciculation In Vivo But Not Axon Specification or Axon Initial Segment Formation. [PDF]

J Neurosci
Melton AJ, Palfini VL, Ogawa Y, Oses Prieto JA, Vainshtein A, Burlingame AL, Peles E, Rasband MN.   +7 more
europepmc   +1 more source

Acute effects of anti‐seizure medications on network level dynamics: A systematic comparison using multielectrode arrays

Epilepsia, EarlyView.
Abstract Objective A multi‐electrode array (MEA) is a powerful extracellular recording technique for long‐term monitoring of neuronal network activity. In recent years, MEA‐based assays have been applied increasingly to evaluate drug efficacy and neurotoxicity, including the assessment of anti‐seizure medications (ASMs). However, systematic comparisons
Griselda Marku, Lena Gschossmann, Kerstin Hallmann, Heinz Beck, Kunihiko Araki   +4 more
wiley   +1 more source

Changes in mitochondrial distribution occur at the axon initial segment in association with neurodegeneration in Drosophila. [PDF]

Biol Open
Wodrich APK, Harris BT, Giniger E.
europepmc   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source