Results 171 to 180 of about 18,928 (260)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Compound Heterozygous <i>COA7</i> Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings. [PDF]

Neurol Genet
Cicala G, Rolleri E, Berti B, Luigetti M, Forcina N, Villa M, Capasso A, Arpaia C, Malaspina M, Fattori F, Bosco L, Primiano G, Novelli A, Rizza T, Bertini E, Pane M, Mercuri E.   +16 more
europepmc   +1 more source

Takotsubo cardiomyopathy during armed conflict: A case series

ESC Heart Failure, Volume 12, Issue 2, Page 1494-1498, April 2025.
Sharon Bruoha, Artyom Star, Gili Givaty, Michael Shilo, Michael Friger, Vladimir Chitoroga, Hezzy Shmueli, Yigal Abramowitz, Elad Asher, Jamal Jafari, Vladimir Shlyakhover, Doron Zahger, Moti Haim, Chaim Yosefy   +13 more
wiley   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Immunotherapy-Induced Glutamic Acid Decarboxylase 65 Cerebellitis. [PDF]

Cureus
Jensen A, Thakkar H, Kramer S, Young J.
europepmc   +1 more source

Epileptic encephalopathy with spike‐and‐wave activation in sleep associated with Tatton–Brown–Rahman syndrome responsive to highly purified cannabidiol

Epileptic Disorders, EarlyView.
Anita N. Datta
wiley   +1 more source

Neurolathyrism in Sub‐Saharan Africa—Assessing the Neurotoxic Risks of Lathyrus sativus Amid Drought and Food Security Challenges

Food Safety and Health, EarlyView.
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew, Muhammad Umar, Pakeezah Tabasum, Maria Qadri, Talha Farooq, Eskeatnaf Yosef Getachew, Zemichael Getu Alemayehu, Eden Haile Hagos, Hailemariam Shimelis Gebeyehu, Hanna Tsehay Abebe, Nuradin Abdi Ali, David Chinaecherem Innocent, Temesgen Mamo Sharew   +12 more
wiley   +1 more source

Case Report: Wernicke's encephalopathy induced by prolonged fasting due to apparent psychogenic dysphagia. [PDF]

Front Behav Neurosci
Mills L, Zou H, Alnounou A, Smeltzer M, Kravchenko T, Gomes T.   +5 more
europepmc   +1 more source

A Prediction Model for One‐Year Disability Risk Among Community‐Dwelling Older Adults in China: Integrating Physical, Metabolic, and Psychosocial Factors

Health Care Science, EarlyView.
Based on a prospective cohort of 1003 older adults, we developed and validated a practical disability prediction model integrating physical, metabolic, and psychosocial factors (AUC = 0.716), presented via a user‐friendly nomogram for community use. ABSTRACT Background Disability in older adults, characterized by progressive limitations in performing ...
Yanjun Ma, Chaofan Geng, Zhibin Wang, Yiwei Zhao, Lixin Ma, Pengpeng Ye, Leilei Duan, Guoping Peng, Yi Tang   +8 more
wiley   +1 more source

Perrault Plus Syndrome Due to the LARS2 Variant c.457A>C Manifesting With Epilepsy, Cognitive Impairment, Myopathy, Spastic Tetraparesis, and Deafness: A Case Report. [PDF]

Cureus
Finsterer J.
europepmc   +1 more source