De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy

@article{Vari2017DeN1,
  title={De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy},
  author={Maria Stella Vari and Monica Traverso and Tommaso Bellini and Francesca Madia and Francesca Pinto and Carlo Minetti and Pasquale Striano and Federico Zara},
  journal={Seizure},
  year={2017},
  volume={50},
  pages={80-82}
}
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References

SHOWING 1-10 OF 11 REFERENCES

Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

The genetic heterogeneity of the idiopathic epilepsy syndromes is highlighted, with families in which the disease segregates as an autosomal dominant trait with reduced disease penetrance having been identified occasionally.

DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy

A single DEPDC5 mutation is found in one of (2.2%) 45 families with genetic temporal lobe epilepsy, a proportion much lower than that reported in other inherited focal epilepsies.

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy

A tridimensional model of the LRR protein region is shown that allows missense mutations of this region to be divided into two distinct groups: structural and functional mutations.

Genetics of Temporal Lobe Epilepsy: A Review

Genetic findings for TLE are listed from the initial segregation analysis to the most recent results published in May 2011 to determine which gene variant combination plays a definitive role in the aetiology of TLE.

Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees

To identify copy number variants (CNVs) related toADLTE, a collection of ADLTE families without LGI1 mutations was examined.

Altered vesicular glutamate transporter expression in human temporal lobe epilepsy with hippocampal sclerosis

Apaf1 in embryonic development - shaping life by death, and more.

This review aims to highlight the origin of Apaf1 discoveries and how findings, mainly based on the analysis of knock-out mouse models, have led it to consider Apf1 as a master player in fine-tuning apoptosis during embryonic development, and to establish howApaf1 function is locally time-dependent in regulating neurodevelopment and becomes dispensable during neuron maturation.

Letter: World Epilepsy Day

A neurologist and epileptologist from a developing country and a professor of neurology dealing with rural patients with epilepsy, it is requested that the ILAE proclaim World Epilepsy Day to improve global epilepsy awareness, cost-effective treatment, and research activity for epilepsy.

Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3

A North American Caucasian family with seven affected individuals with febrile seizures is identified, and haplotype reconstruction indicated that affected individuals and two obligate carriers shared a common chromosome 12q haplotype.