Results 31 to 40 of about 62,047 (246)

Risk factors of epilepsy in a west Algerian population

Journal de la Faculté de Médecine d'Oran, 2022
Introduction - Epilepsy is a chronic neurological disease whose risk factors are very heterogeneous from one population to another. The role attributed to inbreeding in the development of genetically determined diseases has been well documented. However,
Amina Chentouf, Randa Talhi, Aicha Dahdouh, Soumia Benilha, Mohand Laid Oubaiche, Malika Chaouch   +5 more
doaj  

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

The clinical phenotypes and genetic characteristics of seven epilepsy patients related to heterozygous DEPDC5 variants in China

Acta Epileptologica, 2020
Objective DEPDC5 together with NPRL2 and NPRL3 forms the GATOR1 which plays an important role in the the mechanistic target of rapamycin (mTOR) pathway.
Zihan Wei, Luojun Wang, Xiaozhi Qiao, Ying Zhang, Chao Liu, Yanchun Deng   +5 more
doaj   +1 more source

Epilepsy in children with a history of febrile seizures [PDF]

Korean Journal of Pediatrics, 2016
PurposeFebrile seizure, the most common type of pediatric convulsive disorder, is a benign seizure syndrome distinct from epilepsy. However, as epilepsy is also common during childhood, we aimed to identify the prognostic factors that can predict ...
Sang Hyun Lee, Jung Hye Byeon, Gun Ha Kim, Baik-Lin Eun, So-Hee Eun   +4 more
doaj   +1 more source

Epilepsy as a health problem among school children in Turaif, Northern Saudi Arabia, 2017

Electronic Physician, 2017
Background: Epilepsy is the most common serious neurological disorder and is one of the world’s most prevalent non-communicable diseases. There are no recently published data on the prevalence of epilepsy in school children in Northern Saudi Arabia ...
Mahmoud Mohammed Alsharif, Nagah Mohamed Abo el-Fetoh, Gihan Yousef Ali, Khulud Falah Alanazi, Anfal Nayir Alanazi,, Ohud FalahAlanazi, Maha Hazzaa Alshalan, Zuhur Dhaher Alfuhigi, Anwar Eid Alruwaili, Reem Sebeh Alhazmi, Ajaweed Saud Muharrab Alruwaili, Tariq Mozil Aquab Alanizy, Jazzaa Hammad Alshammari, Alwaleed Oqab Altimyat, Muharib Mana Muhaylan Alshammari   +14 more
doaj   +1 more source

Pilot Study on Role of Family History of Epilepsy and Consanguinity in Yemeni Epileptic Patients

Epilepsy Journal, 2018
Objective: To determine the role of family history of epilepsy and consanguinity in Yemeni epileptic patients. Materials and Methods: Prospective descriptive study including all epileptic patients attended Sana'a and Thamar universities hospitals in Yemen during the period from January 2014 to December 2015. Every case was subjected to full clinical
Abdul-Rahman Sallam, Hadi Mujilli, Amin Abdulrab, Zumurudah Haroon   +3 more
openaire   +1 more source

Behavioral Abnormalities in Lagotto Romagnolo Dogs with a History of Benign Familial Juvenile Epilepsy: A Long-Term Follow-Up Study [PDF]

Journal of Veterinary Internal Medicine, 2015
Abstract Background Lagotto Romagnolo (LR) dogs with benign juvenile epilepsy syndrome often experience spontaneous remission of seizures. The long-term outcome in these dogs currently is unknown.
Hielm-Bjorkman A., Seppala E. H., Lohi H., Tiira K., Metsähonkala L., Laitinen-Vapaavuori O., Jokinen T. S., Hielm-Bjorkman A., Seppala E. H., Lohi H., Tiira K., Metsähonkala L., Laitinen-Vapaavuori O., Jokinen T. S.   +13 more
openaire   +3 more sources

Development and Implementation of a Disease‐Targeted Storybook as a Clinical Tool for Children With Acute Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Although significant progress has been made in childhood leukemia survival, healthcare providers, and caregivers often face challenges in explaining this disease to patients. Disease‐targeted storybooks have been proposed as a tool to facilitate the understanding of diagnoses and treatment.
Nutvipha Ummartyotin, Usanarat Anurathapan, Rawiwan Roongpraiwan, Potchanee Dandamrongrak, Siriporn Nakhonchai, Pawin Numthavaj, Vilawan Chirdkiatgumchai   +6 more
wiley   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Establishing an assay to evaluate d‐amino acid oxidase enzyme kinetics and inhibition using WST‐8 redox dye

FEBS Open Bio, EarlyView.
This study investigated a novel WST‐8‐based assay for evaluating d‐Amino acid oxidase (DAO) inhibitors. We confirmed its effectiveness using known inhibitors and found that uremic toxins possess relatively weak inhibitory activity compared to existing drugs.
Kahoko Miyake, Yuki Enoki, Yuka Nakazawa, Kazuaki Taguchi, Kazuaki Matsumoto   +4 more
wiley   +1 more source