Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

doi:10.1007/s00439-002-0682-x

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Back to search

Article

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

Human genetics - 1 Mar 2002

Leegwater P A J, Boor P K I, Yuan B Q, van der Steen J, Visser A, Könst A A M, Oudejans C B M, Schutgens R B H, Pronk J C, van der Knaap M S

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurologic disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Magnetic resonance imaging shows diffusely abnormal and swollen white matter of the cerebral hemispheres and the presence of subcortical cysts in the anterior-temporal region and often also in the frontoparietal...

Topics

Amino Acid Sequence
Animals
Base Sequence
Central Nervous System Cysts
DNA
DNA Mutational Analysis
Dementia, Vascular
Exons
Heredodegenerative Disorders, Nervous System
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Mice

Molecular Sequence Data

Mutation

Potassium Channels

Schizophrenia, Catatonic

Sequence Homology, Amino Acid

Sequence Homology, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 11935341
DOI: 10.1007/s00439-002-0682-x

Genes

MLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.PMID 11935341Read ↗

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.Semantic proximity Read ↗

Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with cysts without MLC1 defect.Semantic proximity Read ↗

A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).Semantic proximity Read ↗

A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.Semantic proximity Read ↗

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).Semantic proximity Read ↗

Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain.Semantic proximity Read ↗

A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.