Results 111 to 120 of about 3,724 (217)

Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms [PDF]

, 2010
Jason T Lerner1, Noriko Salamon2, Raman Sankar1,31Departments of Pediatrics, 2Radiological Sciences, 3Neurology, David Geffen School of Medicine, University of California Los Angeles and Mattel Children’s Hospital at UCLA, Los Angeles, CA ...
Jason T Lerner, Noriko Salamon, Raman Sankar   +2 more
core   +3 more sources

The Microbiota‐Gut‐Brain Connection: A New Horizon in Neurological and Neuropsychiatric Disorders

CNS Neuroscience &Therapeutics, Volume 31, Issue 9, September 2025.
The microbiota‐gut‐brain axis (MGBA) is a crucial regulator of neurological and neuropsychiatric disorders, with gut microbiota dysbiosis linked to various diseases. Gut microbiota changes can lead to neurodegenerative diseases like depression, autism, schizophrenia, Parkinson's, Alzheimer's, dementia, multiple sclerosis, epilepsy, anxiety, and autism ...
Md. Faysal, Mehrukh Zehravi, Baishakhi Sutradhar, Md Al Amin, Thukani Sathanantham Shanmugarajan, Uppuluri Varuna Naga Venkata Arjun, Susithra Ethiraj, Akiladevi Durairaj, Girija Dayalan, Shaik Khadeer Ahamad, Safia Obaidur Rab, Kannan Raman, Talha Bin Emran   +12 more
wiley   +1 more source

Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy [PDF]

Objective Intractable epilepsy is a serious neurologic problem with different etiologies. Decreased levels of pyridoxal phosphate in cerebral spinal fluid of patients with intractable epilepsy due to pyridoxine dependency epilepsy are reported.
Ghofrani, Mohammad, Mollamohammadi, Mohsen, Pirzadeh, Zahra   +2 more
core  

Status epilepticus in older adults: A critical review

Epilepsia, Volume 66, Issue 9, Page 3118-3137, September 2025.
Abstract Older adults (≥60 years of age) have the highest incidence of status epilepticus (SE) among adults and experience the highest morbidity and mortality. SE incidence increases with age in adulthood. A recent study from Austria estimated an incidence of 89.6/100 000 and 67.6/100 000 person‐years adjusted for age and sex in women and men aged >60 ...
Matthew R. Woodward, Michael J. Armahizer, Tina I. Wang, Neeraj Badjatia, Emily L. Johnson, Emily J. Gilmore   +5 more
wiley   +1 more source

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]

, 2015
Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A, Baumgartner, Matthias R, Frazer, Kelly A, Hansen, John-Bjarne, Jepsen, Kristen, Shepard, Peter J, Smith, Erin N   +6 more
core   +1 more source

Seminars in epileptology: How to diagnose status epilepticus in adults and children

Epileptic Disorders, Volume 27, Issue 4, Page 530-549, August 2025.
Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger, P. Bosque‐Varela, G. Kuchukhidze, U. Leitner, J. Höfler, G. Kalss, F. Rossini, G. Pilz, H. Novak, M. Mauritz, K. Poppert, A. Toma, E. Trinka   +12 more
wiley   +1 more source

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Expert Review of Endocrinology & Metabolism, 2016
Pyridoxine-dependent epilepsy (PDE) is a rare genetic condition characterized by intractable and recurrent neonatal seizures that are uniquely alleviated by high doses of pyridoxine (vitamin B6). This recessive disease is caused by mutations in ALDH7A1, a gene encoding Antiquitin, an enzyme central to lysine degradation.
Pena, Izebella Agostinho, Mackenzie, Alex, van Karnebeek, Clara D. M.   +2 more
openaire   +2 more sources

Metabolische Epilepsien mit spezifischen Therapieoptionen: Diagnostischer Leitfaden [PDF]

, 2018
Zusammenfassung: Bei therapieresistenten Anfällen müssen, unabhängig vom jeweiligen Lebensalter, angeborene Stoffwechselerkrankungen erwogen werden.
Plecko, B.
core  

Is oxidative stress an overlooked player in pyridoxine-dependent epilepsy? A focused review [PDF]

, 2021
Mazyar Yazdani, Katja Benedikte Prestø Elgstøen   +1 more
openalex   +1 more source

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source