Results 41 to 50 of about 21,530 (286)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

A Follow Up Study of Admitted Febrile Seizure Patients with Respect to Recurrence of Febrile or Afebrile Seizures

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009
Introduction: Febrile seizure is the most common type of seizure that occurs in 3– 4% of children below the age of 5 years. The purpose of this study was to determine the frequency of recurrence of febrile and afebrile seizures after the first febrile ...
F Mir-Naseri, A Shajari, Z Islami, M Golestan, S Akhavan Karbasi, R Fallah   +5 more
doaj  

Management of febrile seizure and differentiating it from epilepsy: A short review

Indian Journal of Community and Family Medicine, 2018
Febrile seizure is the most common seizures seen in infancy and pre-school era. They are mostly benign in nature. There are two categories of febrile seizures, simple and complex. Both the International League against Epilepsy and the American academy of
Kali Prasanna Swain, Shubhankar Mishra
doaj   +1 more source

Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow, Elizabeth Butler, Melanie P. Napier, Lindsay Havens‐Dyer, Annabelle Tuttle, Patricia C. Lopes, Britt A. Johnson, Paul Kruszka, Kirsty McWalter   +8 more
wiley   +1 more source

Efficacy of Early Intervention with Liskantin or Primidone to Decrease Developmental Delay in Children with Drowet and GEFS+ Syndrome

Journal of Rehabilitation, 2014
Objective: Febrile seizure (FS) occurs between 6 months and 6 years of age. Febrile seizure is a common disease in pediatrics. Some patients are retarded with recurrent febrile seizure.
Mohammad Reza Koushesh, Amin Shahrokhi, Roshanak Vameghi, Mahmoud Reza Ashrafi, Masoud Gharib   +4 more
doaj  

Serum level of vitamin A in febrile children with and without seizure: A comparative study

Heliyon, 2023
Objective: The role of vitamins and antioxidants in the febrile seizure (FS) has recently become of interest. The role of Vitamin A in seizure is remained controversial. It may suppress or provoke the seizure.
Elham Bakhtiari, Farhad Heydarian, Fatemeh Azmoudeh, Maziyar Kaffashbashi, Mohammad Heidarian   +4 more
doaj   +1 more source

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Characteristics of Children Admitted to the Emergency Department with Convulsive Epileptic Seizures: A Single-Center Study

Journal of Pediatric Emergency and Intensive Care Medicine, 2017
Introduction: To evaluate the etiology and characteristics of children admitted to the emergency department with an acute convulsive epileptic seizure. Methods: Data of patients who were admitted to the emergency department with a convulsive epileptic ...
Emel Ataş Berksoy, Ünsal Yılmaz, Rana İşgüder, Selçuk Yazıcı, Tanju Çelik, Aycan Ünalp   +5 more
doaj   +1 more source

Volumetric MRI study of the brain in patients with neurocysticercosis and mesial temporal lobe epilepsy

Epileptic Disorders, EarlyView.
Abstract Objective Neurocysticercosis (NCC) is a common parasitic infection of the central nervous system and a known cause of focal epilepsy. Its potential role in triggering or contributing to mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE‐HS) is suggested, but the impact on brain volumetry remains unclear.
Jaisa Quedi Araújo, Bruna da Silveira Arruda, Sandra Polita, Maurício Anés, Thiago Junqueira Ribeiro de Rezende, Matheus de Lima Ruffini, Adolfo Moraes de Souza, Jordana Soares Chaves, Fabiano Reis, Marino Muxfeldt Bianchin, Juliana Ávila Duarte   +10 more
wiley   +1 more source

Long‐term predictors of seizure outcome after anterior temporal lobectomy in unilateral hippocampal sclerosis: A 281‐patient cohort with mean 10‐year follow‐up

Epileptic Disorders, EarlyView.
Abstract Objective To identify long‐term predictors of seizure outcome after anterior temporal lobectomy (ATL) in a large, homogeneous cohort of patients with drug‐resistant temporal lobe epilepsy (TLE) and MRI‐defined unilateral hippocampal sclerosis (HS), all operated on by a single neurosurgeon with extended follow‐up.
Thiago Pereira Rodrigues, Leonardo Favi Bocca, Elza Marcia Targas Yacubian, Mirian Salvadori Bittar Guaranha, Neide Barreira Alonso, Henrique Carrete Junior, Maria Helena Silva Noffs, Luis Otavio Caboclo, Jeana Torres Corso Duarte, Ricardo Silva Centeno   +9 more
wiley   +1 more source