Related Experiment Video

Updated: Jun 12, 2026

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
05:12

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish

Uluç Yiş1, Gert C Scheper, Nedret Uran

  • 1Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.

The Turkish Journal of Pediatrics
|June 22, 2010
PubMed

Insights

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder. This study identifies MLC1 gene mutations in two patients, including a novel mutation, and reviews Turkish population data.

Area of Science:

  • Neurogenetics
  • Molecular Medicine
  • Pediatric Neurology

Background:

  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited neurological disorder.
  • Characterized by enlarged head (macrocephaly) and gradual neurological decline.
  • MLC is frequently observed in Turkey, with mutations in the MLC1 gene being the primary cause.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

Related Concept Videos

Encephalitis l: Introduction01:19

Encephalitis l: Introduction

Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...