Results 81 to 90 of about 125,979 (217)

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan

Annals of Clinical and Translational Neurology
Background and Objectives The GAA repeat expansion within the fibroblast growth factor 14 (FGF14) gene has been found to be associated with late‐onset cerebellar ataxia.
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Fumikazu Kojima, Yuki Yamanishi, Yasuhiro Aso, Kotaro Izumi, Minako Imada, Yoshimitsu Maki, Hiroto Nakagawa, Takahiro Hobara, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Hiroshi Takashima   +20 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Bilingual episodic memory: an introduction [PDF]

, 2003
Our current models of bilingual memory are essentially accounts of semantic memory whose goal is to explain bilingual lexical access to underlying imagistic and conceptual referents.
Pavlenko, A., Schrauf, R, Dewaele, Jean-Marc   +2 more
core   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Acetazolamide responsive episodic ataxia treated with methazolamide: a case report [PDF]

, 2015
Acetazolamide-responsive ataxia is a rare episodic ataxia (EA) disorder characterized by paroxysmal cerebellar ataxia. Many of the symptoms with EA can be treated with the carbonic anhydrase inhibitor acetazolamide. EA is a family of channelopathies each
Lakhan, Shaheen E
core  

Frequency of anti‐neural antibodies and autoimmune epilepsy in focal epilepsy of unknown etiology: An observational study in a Singaporean cohort

Epilepsia Open, EarlyView.
Abstract Objective Autoimmune epilepsy (AES) is increasingly recognized as a condition in patients with epilepsy of unknown etiology. Early immunotherapy improves outcomes; however, data on its prevalence and the frequency of anti‐neural/neuronal antibodies in Asian populations remain scarce.
Seong Jin Park, Jeanne May May Tan, Xuejuan Peng, Patricia Yut Wan Wong, Karine Su Shan Tay, Angelia Swee Hoon Koe, Janis Siew Noi Tye, Josiah Yui Huei Chai, Pei Xuan Koh, Yee Leng Tan, Sheila Srinivasan, Ngai Kun Loh, Nigel Choon Kiat Tan, Kevin Tan, Tianrong Yeo   +14 more
wiley   +1 more source

Analgesic use, safety and pharmacokinetics of acetaminophen in equids: A structured scoping review

Equine Veterinary Journal, EarlyView.
Abstract Background Despite its frequent use in equine clinical practice, scientific data on the use of acetaminophen in horses remain limited. Objective To map and critically appraise the available evidence on the analgesic use, safety and pharmacokinetics of acetaminophen in horses. Study Design Structured scoping review.
Francisco Medina‐Bautista, Juan Manuel Serrano‐Rodríguez, María del Mar Granados   +2 more
wiley   +1 more source

Molecular genetic characterization of ataxic movement disorders in mouse and human [PDF]

, 2009
Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease ...
van de Leemput, J.C.H., van de Leemput, J C H   +1 more
core  

Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. [PDF]

, 1997
Episodic ataxia type 2 is an autosomal dominant disorder with attacks of vertigo and ataxia which respond to acetazolamide treatment. The gene, distinct from the KCNA1 responsible for episodic ataxia type 1, has been mapped on chromosome 19p13 in a 11-12
Colonnese C, Trettel F, Calandriello L, Francia A, Sabbadini G, Veneziano L, Mantuano E, Viviani P, Manfredi M, Jodice C, Frontali M   +10 more
core   +2 more sources

Adjunctive acetazolamide for drug‐resistant seizures in SLC6A1‐related neurodevelopmental disorder: An exploratory case series

Epilepsia Open
Pathogenic variants in SLC6A1 cause a neurodevelopmental disorder characterized by developmental delay with behavioral disturbances, seizures, often pharmacoresistant, and a spectrum of movement disorders such as ataxia.
Gia Melikishvili, Olivier Dulac, Otar Koniashvili, Giorgi Mamardashvili, Tamar Gachechiladze, Nazhi Tabatadze, Mariam Melikishvili, Rimma Gamirova, Tatyana Tomenko, Igor Bakhtin, Amber Freed, Elena Bossi, Bruria Ben‐Zeev, Gerhard Kluger, Antonio Falace, Antonella Riva, Kai Kaila, Pasquale Striano   +17 more
doaj   +1 more source