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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Characterization of a recurrent 15q24 microdeletion syndrome.
Multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 are described, indicating that this represents a novel syndrome caused by haploinsufficiency of one or more dosage-sensitive genes in the minimal deletion region.
Epilepsy Care in the Time of COVID-19 Pandemic in Italy: Risk Factors for Seizure Worsening
During the current COVID-19 pandemic, a significant percentage of people with epilepsy (PwE) experienced difficulties in follow-up and a seizure number increase, in particular those chronically taking more ASMs and with poor sleep quality.
CHD2 variants are a risk factor for photosensitivity in epilepsy
An overrepresentation of unique variants of CHD2 — which encodes the transcriptional regulator ‘chromodomain helicase DNA-binding protein 2’ — in photosensitive epilepsies is revealed, and it is shown that chd2 knockdown in zebrafish causes photosensitivity.
Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies
Although mTOR activation has been more studied in the FCDIIb and TSC, the observations suggest this pathway is activated in a variety of epilepsy-associated pathologies, and in varied cell types including dysmorphic neurones, microglia and immature cell types.
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Evidence is provided that chr2-linked FAME (FAME2) is caused by an expansion of an ATTTC pentamer within the first intron of STARD7, suggesting ATTTC expansions may cause this disorder, irrespective of the genomic locus involved.
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
- P. Striano, M. Malacarne, F. Faravelli
- Medicine, BiologyAmerican journal of medical genetics. Part A
- 15 September 2006
Focal epilepsy with consistent electroencephalographic features and with certain brain anomalies on neuroimaging studies should suggest 6q terminal deletion, and the awareness of the distinctive clinical picture will help in the diagnosis of this chromosomal abnormality.
Natural history and long‐term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy
The natural history and long‐term evolution of “familial cortical tremor, myoclonus, and epilepsy” is investigated for the first time.
ACE Gene I/D Polymorphism and Acute Pulmonary Embolism in COVID19 Pneumonia: A Potential Predisposing Role
The findings let us hypothesize a genetic susceptibility to thromboembolism in COVID-19 disease, and ACE D/D polymorphism might represent a genetic risk factor, although studies on larger populations are needed.