Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Neurology"
DOI: 10.1002/ana.26609
Abstract: Brain somatic mutations in mTOR pathway genes are a major genetic etiology of focal cortical dysplasia type II (FCDII). Despite a greater ability to detect low‐level somatic mutations in the brain by deep sequencing and… read more here.
Keywords: level somatic; focal cortical; cortical dysplasia; low level ... See more keywords
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2086
Abstract: Focal cortical dysplasia type 2 (FCD2) is a malformation of cortical development that constitutes a common cause of pediatric focal epilepsy. Germline or somatic variants in the mammalian target of rapamycin (mTOR) signaling pathway genes… read more here.
Keywords: focal cortical; identification genetic; dysplasia type; cortical dysplasia ... See more keywords
Renal‐hepatic‐pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity
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DOI: 10.1002/mgg3.2135
Abstract: Renal‐hepatic‐pancreatic dysplasia type 2 (RHPD2) is a rare condition that has been described in the literature disproportionately in perinatal losses. The main features of liver and kidney involvement are well described, with cardiac malformations and… read more here.
Keywords: hepatic pancreatic; pancreatic dysplasia; renal hepatic; dysplasia type ... See more keywords
Magnetoencephalographic Characteristics of Cortical Dysplasia in Children.
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2017.09.009
Abstract: BACKGROUND AND RATIONALE Magnetoencephalography has emerged as a tool for preoperative evaluation in children. We studied magnetoencephalography characteristics in subtypes of focal cortical dysplasia and correlated the findings with postoperative seizure outcome. METHODS Inclusion criteria… read more here.
Keywords: dysplasia type; focal cortical; magnetoencephalography; cortical dysplasia ... See more keywords
Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.
Sign Up to like & getrecommendations! Published in 2022 at "DNA and cell biology"
DOI: 10.1089/dna.2022.0453
Abstract: This study aims to conduct a comprehensive clinical and genetic investigation on a large family with members having various phenotypes, including acromesomelic dysplasia, type Maroteaux (AMDM), idiopathic short stature (ISS), Crouzon syndrome (CS). Prenatal diagnosis… read more here.
Keywords: acromesomelic dysplasia; family; crouzon syndrome; dysplasia type ... See more keywords
Long-term follow-up of patients with intestinal neuronal dysplasia type B
Sign Up to like & getrecommendations! Published in 2017 at "Medicine"
DOI: 10.1097/md.0000000000007485
Abstract: Abstract Intestinal neuronal dysplasia type B (IND-B) is a pathological entity of the group of gastrointestinal neuromuscular diseases characterized by complex alterations in the enteric nervous system. Patients typically present with intestinal constipation, sometimes complicated… read more here.
Keywords: neuronal dysplasia; long term; intestinal neuronal; treatment ... See more keywords
Defining the latent period of epileptogenesis and epileptogenic zone in a focal cortical dysplasia type II (FCDII) rat model
Sign Up to like & getrecommendations! Published in 2021 at "Epilepsia"
DOI: 10.1111/epi.16868
Abstract: Focal cortical dysplasia type II (FCDII) is one of the most common underlying pathologies in patients with drug‐resistant epilepsy. However, mechanistic understanding of FCDII fails to keep pace with genetic discoveries, primarily due to the… read more here.
Keywords: focal cortical; cortical dysplasia; dysplasia type; type fcdii ... See more keywords
Association between Clinical and Histopathological Findings in Intestinal Neuronal Dysplasia Type B: An Advance towards Its Definition as a Disease
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DOI: 10.3390/life13051175
Abstract: Introduction: Intestinal neuronal dysplasia type B (IND-B) is a controversial entity that affects the submucosal nerve plexus of the distal intestine. The lack of definition of the causal relationship between histological findings and clinical symptoms… read more here.
Keywords: intestinal neuronal; neuronal dysplasia; association clinical; histopathological findings ... See more keywords