Results 11 to 20 of about 202,677 (211)

Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers–Danlos syndrome

Frontiers in Genetics, 2023
Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an increased risk of arterial dissection and hollow organ rupture. In women with vEDS,
Chloe Angwin, Chloe Angwin, Neeti Ghali, Neeti Ghali, Fleur Stephanie van Dijk, Fleur Stephanie van Dijk   +5 more
doaj   +1 more source

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

West Syndrome and associated Autism Spectrum Disorder: Proposal for a neuropsychological assessment and intervention protocol [PDF]

Papeles del Psicólogo, 2022
Patients with West Syndrome and associated Autism Spectrum Disorder (ASD) have cognitive deficits (i.e., attentional, mnestic, visuoperceptive, executive function, and language impairments) that may affect their quality of life.
Christian López-Cruz, Irene Cano-López, Marta Aliño, Sara Puig-Pérez   +3 more
doaj   +1 more source

Infantile epileptic spasms syndrome as an initial presentation in infantile choroid plexus papilloma: A case report

Frontiers in Pediatrics, 2022
We present an interesting report of a 5-month-old infant with epileptic spasms and developmental delay who presented with non-isolated ventriculomegaly in utero and whose brain magnetic resonance imaging revealed right ventricular choroid plexus ...
Faliang Zhou, Yu Li, Lixue Shen, Hongxin Yao, Xinlin Hou   +4 more
doaj   +1 more source

West syndrome in patients with Kabuki syndrome (literature review and case report)

Русский журнал детской неврологии, 2022
Kabuki syndrome (KS) is a rare genetic disorder that has facial phenotypic descriptors, retarded growth, various malformations and different degrees of intellectual disability.Objective: to study the characteristic features of KS comorbid with West ...
M. L. Zhitomirskaya, E. V. Snegova, G. V. Odintsova   +2 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

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

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

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 ...
Roli Bhargava, Surabhi Chandra, Chandrakanta Kumar, Anupama Bhave, Rashmi Kumar   +4 more
openaire   +4 more sources

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