Results 11 to 20 of about 261,143 (157)

Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

Frontiers in Genetics, 2023
Introduction:AEBP1-related classical-like EDS (clEDS type 2) is a rare type of Ehlers–Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB-related classical-like EDS (or clEDS type 1), including skin ...
Chloe Angwin, Chloe Angwin, Neeti Ghali, Neeti Ghali, Fleur Stephanie van Dijk, Fleur Stephanie van Dijk   +5 more
doaj   +1 more source

The Effectiveness of Acth Therapy According to Etiology in Patients with West Syndrome and Its Long-Term Effects on Bone Mineral Metabolism and Adrenal Pathway

Çocuk Dergisi, 2022
Objective: West syndrome is the most common infantile epileptic encephalopathy, and ACTH or oral corticosteroids are frequently used in its treatment. The aim of this study was to evaluate the efficacy of ACTH therapy and its effects on bone metabolism ...
Mesut Güngör, Mine Düzgöl, Hülya Maraş Genç, Emek Uyur Yalçın, Filiz Mine Çizmecioğlu Jones, Bülent Kara   +5 more
doaj   +1 more source

Burst suppression pattern on EEG in West syndrome in an infant with heterozygous variant in the CACNA1A gene

Annals of Medical Science and Research, 2023
West syndrome is a severe epilepsy syndrome characterized by the classical triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and psychomotor retardation.
Nikhil Gladson, Sheetal Sasikumar, Jiya Thankam Koshy   +2 more
doaj   +1 more source

West Syndrome: Response to Valproate [PDF]

Frontiers in Neurology, 2012
Management of West syndrome is unsatisfactory. In our clinic we observed that a significant proportion of patients respond to usual dose of valproate.To prospectively assess the efficacy of valproate in controlling infantile spasms in West syndrome.Consecutive patients presenting with West syndrome to the Pediatric Neurology Clinic or general ...
Chandra, Surabhi, Bhave, Anupama, Bhargava, Roli, Kumar, Chandrakanta, Kumar, Rashmi   +4 more
openaire   +3 more sources

Evaluation of the short-term effects on bone mineral metabolism and the adrenal pathway of adrenocorticotropic hormone therapy used in epileptic encephalopathy

Journal of Contemporary Medicine, 2023
Background: We aimed to investigate the short-term effects of adrenocorticotropic hormone (ACTH) treatment on the adrenal pathway and bone metabolism in patients with epileptic encephalopathy.
Bülent Kara, Filiz Mine Çizmecioğlu Jones, Emek Uyur Yalçın, Hülya Maraş Genç, Bengü Altınordu, Mesut Güngör   +5 more
doaj   +1 more source

KABUKI SYNDROME AND EPILEPSY

Malang Neurology Journal, 2022
Background: Kabuki syndrome is a rare disease. In 2018, a global consensus on diagnostic criteria for Kabuki syndrome (KS) was published, diagnosing KS both with and without molecular genetic confirmation.
Marina Zhitomirskaya, Galina Treskina, Nina Dengina, Galina Odinstova   +3 more
doaj   +1 more source

Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms

Children, 2020
Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic features, which affects children in the middle of the first year of life. The pathophysiology of IS remains incompletely understood, despite the heterogeneity of
Remi Janicot, Li-Rong Shao, Carl E. Stafstrom   +2 more
doaj   +1 more source

Investigations in West Syndrome: Which, When and Why

Pediatric Neurology Briefs, 2015
Investigators from the National Infantile Spasms Consortium (NISC) in the USA studied the etiology of new-onset infantile spasms (IS) in 251 infants (mean age at onset, 7.1, range, 0.1-22.7 months).
Richard E Appleton
doaj   +1 more source

Speech Language and Hearing Aspects in West Syndrome: A Single-Case Report

Journal of Integrated Health Sciences, 2023
West syndrome (WS), or infantile spasms, is a rare type of epilepsy that usually appears in the 1st year of life. It is characterized by a specific type of seizure called a spasm, which involves sudden, brief jerks of the arms, legs, or trunk.
Mukesh Sharma, Mansha Parmar, Santosh Kumar   +2 more
doaj   +1 more source

West Syndrome Remission Following Acute Viral Infection

Pediatric Neurology Briefs, 2011
Researchers at Nihon University School of Medicine, Tokyo, Japan, report 11 children with intractable epilepsy (West syndrome in 6 and myoclonic seizures in 5) who showed clinical and electrographic improvement following acute viral infection.
J Gordon Millichap
doaj   +1 more source