Results 51 to 60 of about 2,580 (168)
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1268-1275, June 2026.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
, 2023 Kabuki Syndrome is a congenital disorder present from the birth. It affects 1 in 32,000 Japanese people. It is caused by heterozygous mutation that results in an uncommon systemic progression of the disease. A peculiar facial dysmorphia with dwarfism and varying degrees of mental retardation are the defining characteristics of this syndrome.
openaire +1 more source
Roles of histone lysine methylation in neurodevelopment and related disorders
Ibrain, Volume 12, Issue 2, Page 201-221, Summer 2026.This graphical abstract centers on the theme of dynamic balance and systematically outlines the role of histone lysine methylation in neurodevelopment and related disorders. The figure first presents two key classes of regulators that control this balance—“writers” and “erasers”—and then indicates how interactions among different epigenetic ...
Yun Chen +3 more
wiley +1 more source
Recurrent Dislocation of the Patella in Kabuki Make-Up Syndrome
Case Reports in Orthopedics, 2012 Two patients with Kabuki make-up syndrome with bilateral recurrent dislocation of the patella are presented. They had generalized ligamentous laxity and patellofemoral dysplasia.
Lucie Rouffiange +2 more
doaj +1 more source
Mutation spectrum of
Orphanet Journal of Rare Diseases, 2011 Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and ...
Renieri Alessandra +40 more
doaj +1 more source
Anesthesia Management in a Patient with Kabuki Syndrome [PDF]
Medical Archives, 2014 The aim of this case was to describe the anesthetic approach to a patient with Kabuki syndrome.A patient with Kabuki syndrome had revision surgery for scoliosis. On physical examination, shown were long palpebral fissures, large, prominent fissures with an eversion of the lateral third of the lower eyelids, large, prominent malformed ears with low ...
Atalay Y.O. +3 more
openaire +3 more sources
Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
Clinical Genetics, Volume 109, Issue 6, Page 1029-1037, June 2026.Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji +4 more
wiley +1 more source
Clinical Case Reports, 2022 Kabuki syndrome (KS) is a genetic disorder characterized by distinctive facies, intellectual disability, and multi‐organ anomalies. This case report highlights the importance of clinical recognizable phenotype in patients with diabetes.
Yotsapon Thewjitcharoen +6 more
doaj +1 more source
Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 561-578, June 2026.ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken +3 more
wiley +1 more source