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Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria.
Eur J Med Genet
December 2024
Department of Neurology & Rehabilitation, Qingdao Women & Children's Hospital, Qingdao University, Qingdao, China. Electronic address:
Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.
View Article and Find Full Text PDFLissencephaly with subcortical band heterotopia in an East African child: A case report.
Radiol Case Rep
January 2025
Department of Paediatrics, Muhimbili National Hospital, Dar es Salaam, Tanzania.
Article Synopsis
- Lissencephaly is a rare brain condition that leads to a smooth cerebral surface, often resulting in developmental delays, mental challenges, and seizures.
- A case study of a 3-year-old girl showed symptoms like developmental delay and seizures, with MRI confirming lissencephaly and associated conditions.
- Early diagnosis and treatment with antiseizure medications and physiotherapy can improve outcomes and quality of life, especially in areas with limited resources.
Pulmonary hypertension in patients carrying FLNA loss-of-function variants.
Eur Respir J
November 2024
University of Paris-Saclay, School of Medicine, le Kremlin-Bicêtre, France
Background: Pulmonary hypertension (PH) is an unusual complication of X-linked disease caused by loss-of-function (LOF) variants in the () gene. Patients with LOF may also present dysmorphic facial features, aortic dilation, thrombopenia, and periventricular nodular heterotopia (PVNH).
Methods: We reported clinical, functional, radiologic, and hemodynamic characteristics of patients with LOF variants and PH from the French PH Network.
A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants.
Ital J Pediatr
September 2024
Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Bucharest, 050096, Romania.
Article Synopsis
- * A case was reported involving a child from a nonconsanguineous family with significant developmental delays, severe seizures, and brain abnormalities, found to have two harmful variants in the CCDC88A gene.
- * The findings highlight the need for genetic screening for CCDC88A variants due to shared clinical features and brain malformations seen in affected individuals, pointing to consistent phenotypes.
Double Cortex Syndrome: An Unusual Cause of Seizures.
Cureus
June 2024
Department of Neurology, Agadir University Hospital, Agadir, MAR.
Gray matter heterotopia (GMH) is caused by abnormal neuronal migration during brain development. Subcortical band heterotopia (SBH), or double cortex, is a rare variant of GMH that mainly affects female patients with epilepsy (PWE) with different degrees of mental retardation. We present the case of a 25-year-old woman who was admitted to the neurology department of our tertiary hospital with generalized tonic-clonic seizures.
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