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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
The high prevalence of mutations causing protein truncations confirms that loss of function is the major cause of the disorder.
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.
- R. Guerrini, P. Bonanni, G. Casari
- Medicine, PsychologyBrain : a journal of neurology
- 1 December 2001
Clinical and neuro- physiological characteristics suggest diffuse cortical hyperexcitability and high propensity for intra-hemispheric and inter-hemisphere cortical spread, as well as rhythmic myoclonic activity.
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
The phenotype of infantile spasms with severe dyskinetic quadriparesis increases the number of human disorders that result from the pathologic expansion of single alanine repeats.
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
Mutation analysis of LIS1, using highly sensitive techniques such as denaturing high-pressure liquid chromatography, should be considered for patients with posteriorly predominant subcortical band heterotopia and pachygyria.
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex
The histopathological features of an autopsy case of BPNH with widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex, in whom a novel exon 11 (Val528Met) filamin 1 mutation is found.
Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development
The results expand the set of pathological mutations in DYNC1H1, reinforce the role of cytoplasmic dynein in disorders of neuronal migration, and provide evidence for a syndrome including spinal nerve degeneration and brain developmental problems.
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
Mutation analysis of FLN1 should support genetic counseling in men with periventricular nodular heterotopia and is caused by different genetic mechanisms, including somatic mosaicism.
Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene
Mutations in ISPD, encoding the isoprenoid synthase domain containing protein, have been described in Walker-Warburg syndrome and muscle-eye-brain disease, 2 typical dystroglycanopathies.
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype
Novel physiological mechanisms concerning wild-type Kir2.1 channel processing by the cell are revealed, suggesting the need for a neuropsychiatric evaluation in patients with SQT3S and offering new opportunities for disease management.