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Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab.

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Megalencephaly means an increased size or weight of a generally well-formed brain. It is a feature of a heterogeneous group of mostly familial human disorders with prenatal or early childhood onset. Seizures, motor deficits, mental retardation or milder cognitive impairment are sometimes present.

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

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The frequent co-occurrence of autism spectrum disorders (ASD) and epilepsy, or paroxysmal EEG abnormalities, defines a condition termed autism-epilepsy phenotype (AEP). This condition results, in some cases , from dysfunctions of glial inwardly rectifying potassium channels (Kir), which are mainly

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants

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Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding heterooctameric ATP-sensitive potassium

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.

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Mutations in the MLC1 gene, which encodes a protein expressed in brain astrocytes, are the leading cause of MLC, a rare leukodystrophy characterized by macrocephaly, brain edema, subcortical cysts, myelin and astrocyte vacuolation. Although recent studies indicate that MLC1 protein is implicated in

Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome.

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A 6-year-old Syrian boy presented with complaints of facial dysmorphism and difficulty of walking. He had coarse face, macrocephaly, pectus carinatum, x-bain deformity, kyphosis, corneal clouding, and claw hand deformity. Galactose-6 sulphatase enzyme level was 0.1 nmol/mg.17 h (reference range,

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

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ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded by ABCC8 and ABCC9, respectively), couple metabolism to excitability in

MLC1 protein: a likely link between leukodystrophies and brain channelopathies.

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Megalencephalic leukoencephalopathy with subcortical cysts (MLCs) disease is a rare inherited, autosomal recessive form of childhood-onset spongiform leukodystrophy characterized by macrocephaly, deterioration of motor functions, epileptic seizures and mental decline. Brain edema, subcortical fluid

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare leukodystrophy characterized by macrocephaly, subcortical fluid cysts and myelin vacuolation, has been linked to mutations in the MLC1 gene. This gene encodes a membrane protein that is highly expressed in astrocytes. Based on

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by dysfunction of the role of glial cells in controlling brain fluid and ion homeostasis. Patients affected by MLC present macrocephaly, cysts and white matter vacuolation, which lead to

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

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Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K(v)1.1) at the nodes of Ranvier. We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished

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