Genetics of Temporal Lobe Epilepsy: A Review

Salzmann, Annick; Malafosse, Alain

doi:10.1155/2012/863702

Cited by 19 publications

(16 citation statements)

References 115 publications

(118 reference statements)

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“…Monogenic epilepsy syndromes commonly involve mutations in ion channel or neurotransmitter receptor proteins [102]. The genetics of partial epilepsies, including TLE are likely to be complex [103]; familial forms of TLE with HS are recognized and some of the candidate genes also involve ion channels [104] as well as in sporadic TLE [105]. For example, a recent genome‐wide association study has linked a sodium channel gene cluster of SCN1a in patients with HS and a history of febrile seizures [106].…”

Section: Neuropathology Studies Of Epileptogenic Processes In Hsmentioning

confidence: 99%

Review: Hippocampal sclerosis in epilepsy: a neuropathology review

Thom

2014

Neuropathology Appl Neurobio

475

365

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Hippocampal sclerosis (HS) is a common pathology encountered in mesial temporal lobe epilepsy (MTLE) as well as other epilepsy syndromes and in both surgical and post-mortem practice. The 2013 International League Against Epilepsy (ILAE) classification segregates HS into typical (type 1) and atypical (type 2 and 3) groups, based on the histological patterns of subfield neuronal loss and gliosis. In addition, granule cell reorganization and alterations of interneuronal populations, neuropeptide fibre networks and mossy fibre sprouting are distinctive features of HS associated with epilepsies; they can be useful diagnostic aids to discriminate from other causes of HS, as well as highlighting potential mechanisms of hippocampal epileptogenesis. The cause of HS remains elusive and may be multifactorial; the contribution of febrile seizures, genetic susceptibility, inflammatory and neurodevelopmental factors are discussed. Post-mortem based research in HS, as an addition to studies on surgical samples, has the added advantage of enabling the study of the wider network changes associated with HS, the long-term effects of epilepsy on the pathology and associated comorbidities. It is likely that HS is heterogeneous in aspects of its cause, epileptogenetic mechanisms, network alterations and response to medical and surgical treatments. Future neuropathological studies will contribute to better recognition and understanding of these clinical and patho-aetiological subtypes of HS.

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Section: Neuropathology Studies Of Epileptogenic Processes In Hsmentioning

confidence: 99%

Review: Hippocampal sclerosis in epilepsy: a neuropathology review

Thom

2014

Neuropathology Appl Neurobio

475

365

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“…Genetic mutations in the 5-HTT gene influence 5-HTT expression and change extracellular 5-HT levels, therefore increasing susceptibility to seizures (Ottman and Risch, 2012; Salzmann and Malafosse, 2012). One of the most studied polymorphisms in this gene is a variable number of tandem repeats (5-HTTVNTR) polymorphism, located in the second intron, with a repetition unit containing 17 bp.…”

Section: Monoamines In Epilepsy: Genetic Evidencementioning

confidence: 99%

Monoaminergic Mechanisms in Epilepsy May Offer Innovative Therapeutic Opportunity for Monoaminergic Multi-Target Drugs

et al. 2016

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A large body of experimental and clinical evidence has strongly suggested that monoamines play an important role in regulating epileptogenesis, seizure susceptibility, convulsions, and comorbid psychiatric disorders commonly seen in people with epilepsy (PWE). However, neither the relative significance of individual monoamines nor their interaction has yet been fully clarified due to the complexity of these neurotransmitter systems. In addition, epilepsy is diverse, with many different seizure types and epilepsy syndromes, and the role played by monoamines may vary from one condition to another. In this review, we will focus on the role of serotonin, dopamine, noradrenaline, histamine, and melatonin in epilepsy. Recent experimental, clinical, and genetic evidence will be reviewed in consideration of the mutual relationship of monoamines with the other putative neurotransmitters. The complexity of epileptic pathogenesis may explain why the currently available drugs, developed according to the classic drug discovery paradigm of “one-molecule-one-target,” have turned out to be effective only in a percentage of PWE. Although, no antiepileptic drugs currently target specifically monoaminergic systems, multi-target directed ligands acting on different monoaminergic proteins, present on both neurons and glia cells, may represent a new approach in the management of seizures, and their generation as well as comorbid neuropsychiatric disorders.

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“…As suggested by segregation and linkage studies, FS (7) and TLE (8) could be considered as complex disorders with genetic predisposition. However, few genes have been reproducibly associated with FS (9) and TLE (10). This may be due to the clinical heterogeneity of the patients included in almost all studies.…”

mentioning

confidence: 99%

Naturally Occurring Carboxypeptidase A6 Mutations

Sapio

Salzmann

Vessaz

et al. 2012

Journal of Biological Chemistry

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Background: Two mutations in the carboxypeptidase A6 (CPA6) gene were previously found in epilepsy patients. Results: Many additional CPA6 mutations were found. Some inactivated CPA6 and were more frequently found in epilepsy patients than controls. Conclusion: Several CPA6 mutations greatly reduce enzyme activity, but the most frequently found mutations do not. Significance: Mutations in CPA6 are associated with rare cases of epilepsy.

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Genetics of Temporal Lobe Epilepsy: A Review

Cited by 19 publications

References 115 publications

Review: Hippocampal sclerosis in epilepsy: a neuropathology review

Review: Hippocampal sclerosis in epilepsy: a neuropathology review

Monoaminergic Mechanisms in Epilepsy May Offer Innovative Therapeutic Opportunity for Monoaminergic Multi-Target Drugs

Naturally Occurring Carboxypeptidase A6 Mutations

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