Results 91 to 100 of about 3,547 (200)

Pipecolic acid: A diagnostic marker in pyridoxine‐dependent epilepsy [PDF]

Annals of Neurology, 2005
Contains fulltext : 49173.pdf (Publisher’s version ) (Open Access)
Willemsen, M.A.A.P., Mavinkurve-Groothuis, A.M.C., Wevers, R.A., Rotteveel, J.J., Jakobs, C.   +4 more
openaire   +2 more sources

Retrospective, Multicenter Study of Lacosamide to Treat Neonatal Seizures

Annals of the Child Neurology Society, Volume 4, Issue 1, Page 52-63, March 2026.
ABSTRACT Objective Most antiseizure medications (ASMs) are prescribed off label for neonates. Lacosamide's efficacy in infants and availability in intravenous formulation suggest potential utility for neonates. We evaluated the safety and efficacy of lacosamide for neonatal seizures. Methods This 10‐center, retrospective study of neonates with seizures
Alexandra Santana Almansa, Jessica R. Landers, Nicholas S. Abend, Giulia M. Benedetti, Catherine J. Chu, Andrew T. Knox, Shavonne Massey, Steffany Moen, Andrea C. Pardo, Arnold Sansevere, Renée A. Shellhaas, Cameron Thomas, Tammy Tsuchida, Sonya Wang, Bo Zhang, Janet S. Soul   +15 more
wiley   +1 more source

Global host metabolic response to Plasmodium vivax infection: a 1H NMR based urinary metabonomic study [PDF]

, 2011
Background Plasmodium vivax is responsible for the majority of malarial infection in the Indian subcontinent. This species of the parasite is generally believed to cause a relatively benign form of the disease.
Arjun Sengupta, Soumita Ghosh, Angika Basant, Suhas Malusare, Parul Johri, Sulabha Pathak, Shobhona Sharma, Haripalsingh M Sonawat   +7 more
core   +2 more sources

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
We report a novel homozygous pathogenic PGAP3 variant (c.202dupT; p.Cys68fs*2) in a child with hyperphosphatasia and severe neurodevelopmental impairment. Elevated alkaline phosphatase guided diagnosis, expanding the genotypic and phenotypic spectrum of PGAP3‐related HPMRS.
Arash Salmaninejad, Mohammad Reza Seyedtaghia, Ali Hosseini Bereshneh, Nasrin Azizi, Reza Bayat, Somaye Esnaashari, Vahid Aminzadeh, Shahin Koohmanaee, Shahram Savad, Majid Mojarrad, Setila Dalili   +10 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  

The Plight of the Lucluc: Examining the Deadly Mystery of Nodding Syndrome [PDF]

, 2015
Nodding syndrome (NS) is an emerging epidemic neurological disease that is shrouded in mystery. It is currently only found in the post-conflict regions of South Sudan, northern Uganda, and Tanzania.
McGann, Ethan K
core  

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis

Epilepsia, Volume 67, Issue 3, Page 1406-1420, March 2026.
Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Ashwini Mushunuri, Oluyomi Adesoji, Roland Krause, Patrick May, Holger Lerche, Albert Becker, Daniela Grimm, International League Against Epilepsy Consortium on Complex Epilepsies, Michael Nothnagel, Herbert Schulz   +9 more
wiley   +1 more source

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes [PDF]

, 2017
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the ...
Barba, C, Bianchini, C, Bigoni, S, Cellini, E, Chiti, L, Clinical Study Group, De Vita, D, Galuppi, A, Guerrini, R, MANGANO, Salvatore, Mari, F, Marini, C, Mei, D, Montomoli, M, Parrini, E, Pisano, T, Pucatti, D, Rosati, A, Rutigliano, D, Virdò, S   +19 more
core   +1 more source

Deficiency of Tissue Nonspecific Alkaline Phosphatase Dysregulates Microglial Morphology and Function in a Mouse Model of Infantile Hypophosphatasia

Journal of Neurochemistry, Volume 170, Issue 3, March 2026.
Using male and female tissue‐nonspecific alkaline phosphatase (TNAP) knockout (KO) and wild type (WT) mice, we show TNAP loss impairs growth and sensorimotor function and induces marked microglial morphological changes (enlarged soma, retracted processes).
Kareem Elaswad, Yara Mashal, Iyah Nasser, Linna Almhanaa, Chloe Grabowski, Zhi Zhang   +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