Results 101 to 110 of about 10,435 (208)

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Frontiers in Neuroscience, 2019
Broad-scale untargeted biochemical phenotyping is a technology that supplements widely accepted assays, such as organic acid, amino acid, and acylcarnitine analyses typically utilized for the diagnosis of inborn errors of metabolism.
Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Mauricio R. Delgado, Marwan Shinawi, Toni S. Pearson, Seema R. Lalani, William J. Craigen, V. Reid Sutton, Anne M. Evans, Qin Sun, Lisa T. Emrick, Lisa T. Emrick, Sarah H. Elsea   +13 more
doaj   +1 more source

A 47-Year Old Female with Muscular Rigidity, New-Onset Diabetes and Hypothyroidism [PDF]

, 2013
Background This case highlights a rare but devastating neurologic condition, Stiff Person Syndrome (SPS). While symptoms of muscular rigidity andspasms areassocia ted with numerous neuromuscular conditions, the association between SPS, autoimmune ...
Valentino, MD, PhD, Michael A.
core   +2 more sources

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 972-983, May 2026.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Continuous bilateral infusion of vigabatrin into the subthalamic nucleus: Effects on seizure threshold and GABA metabolism in two rat models

Neurobiology of Disease, 2016
The subthalamic nucleus (STN) plays a crucial role as a regulator of basal ganglia outflow but also influences the activity of cortical and limbic structures, so that it is widely used as a therapeutic target in different brain diseases, including ...
Laura Gey, Manuela Gernert, Wolfgang Löscher   +2 more
doaj   +1 more source

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy [PDF]

, 2016
The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system.
Ambegaonkar, G, Kurian, MA, McTague, A, Meyer, E, Ngoh, A, Papandreou, A, Scott, RH, Trump, N   +7 more
core   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men [PDF]

, 2009
Succinic semialdehyde dehydrogenase (SSADH) deficiency, a disorder of GABA degradation with subsequent elevations in brain GABA and GHB, is a neurometabolic disorder with intellectual disability, epilepsy, hypotonia, ataxia, sleep disorders, and ...
A Buzzi, A Gropman, A Shao, BM Hogema, C Yalçinkaya, C. Jakobs, CJ Landmark, GL Krauss, GM Chowdhury, I Arnulf, I Knerr, I Knerr, I. Knerr, J. M. Pettiford, K Ergezinger, K Nylen, K. Forester, K. M. Gibson, KM Gibson, LS Stewart, M Gupta, M Gupta, M Qiao, M. A. Cortez, MA Al-Essa, MA Cortez, MT Acosta, O. Carter Snead, P. L. Pearl, PL Pearl, PL Pearl, PL Pearl, PL Pearl, PL Pearl, PL Pearl, R Scherschlicht, RG Peyster, S Vanhatalo, S Ziyeh, SJ Spence, SW Sauer, T Ethofer, T Shinka, V Leuzzi, W Froestl, W. H. Theodore, WH Butler, Y Wu, Y. Wu   +48 more
core   +1 more source

Vigabatrina no tratamento da síndrome de West: avaliação clínica e eletrencefalográfica em 13 pacientes Treatment of West syndrome with vigabatrin: clinical and electroencephalographic evaluation of 13 patients

Arquivos de Neuro-Psiquiatria, 2007
Avaliamos a eficácia da vigabatrina (VGB) como monoterapia inicial para síndrome de West (SW), os seus efeitos colaterais e a evolução a curto prazo do eletrencefalograma (EEG), num estudo prospectivo, aberto e não controlado.
Adélia Maria de Miranda Henriques-Souza, Luiz Ataide Junior, Silvia Gomes Laurentino   +2 more
doaj   +1 more source

Plagiarism penalties [PDF]

, 2015
Research in all areas of sciences and humanities has led to the creation of a highly competitive environment which necessitates reporting of ideas, and discoveries at rapid pace.
Siddiqui, Anwar, Wasay, Mohammad
core   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source