Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras

Dazzo, Emanuela; Santulli, Lia; Posar, Annio; Fattouch, Jinane; Conti, Sara; Straaten, Martin Lodén van; Mijalkovic, Jona; Bortoli, Marzia De; Rosa, Marcelo Prado Amaral; Millino, Caterina; Pacchioni, Beniamina; Bonaventura, Carlo Di; Giallonardo, Anna Teresa; Striano, Salvatore; Striano, Pasquale; Parmeggiani, Antonia; Nobile, Carlo

doi:10.1016/j.eplepsyres.2014.12.004

Cited by 19 publications

(14 citation statements)

References 27 publications

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“…The clinical findings of these 12 families have been reported in detail in previous papers [5], [13] and are summarized in Table 1, Table 2. In brief, there were 57 patients (12 deceased) belonging to 12 families.…”

Section: Resultsmentioning

confidence: 93%

“…We analyzed the clinical features of 7 RELN mutated families [6] and compared the results with those observed in 12 LGI1 mutated pedigrees [5], [13]. The clinical, EEG, and neuroimaging findings of each family are reported in detail in Table 1, Table 2.…”

Section: Resultsmentioning

confidence: 99%

“…The 12 LGI1 mutated families have been described in detail elsewhere [2], [5], [7], [8], [9], [10], [11], [12], [13] whereas the 7 pedigrees with RELN mutations have been reported limited only to the genetic findings [6].…”

Section: Methodsmentioning

confidence: 99%

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The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

Michelucci

Pulitano

Bonaventura

et al. 2017

Epilepsy & Behavior

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ObjectiveTo describe the clinical phenotype of 7 families with Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) related to Reelin (RELN) mutations comparing the data with those observed in 12 LGI1-mutated pedigrees belonging to our series.MethodsOut of 40 Italian families with ADLTE, collected by epileptologists participating in a collaborative study of the Commission for Genetics of the Italian League against Epilepsy encompassing a 14-year period (2000–2014), 7 (17.5%) were found to harbor heterozygous RELN mutations. The whole series also included 12 (30%) LGI1 mutated families and 21 (52.5%) non-mutated pedigrees. The clinical, neurophysiological, and neuroradiological findings of RELN and LGI1 mutated families were analyzed.ResultsOut of 28 affected individuals belonging to 7 RELN mutated families, 24 had sufficient clinical data available for the study. In these patients, the epilepsy onset occurred at a mean age of 20 years, with focal seizures characterized by auditory auras in about 71% of the cases, associated in one-third of patients with aphasia, visual disturbances or other less common symptoms (vertigo or déjà-vu). Tonic–clonic seizures were reported by almost all patients (88%), preceded by typical aura in 67% of cases. Seizures were precipitated by environmental noises in 8% of patients and were completely or almost completely controlled by antiepileptic treatment in the vast majority of cases (96%). The interictal EEG recordings showed epileptiform abnormalities or focal slow waves in 80% of patients, localized over the temporal regions, with marked left predominance and conventional 1,5T MRI scans were not contributory.By comparing these findings with those observed in families with LGI1 mutations, we did not observe significant differences except for a higher rate of left-sided EEG abnormalities in the RELN group.SignificanceHeterozygous RELN mutations cause a typical ADLTE syndrome, indistinguishable from that associated with LGI1 mutations.

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Section: Resultsmentioning

confidence: 93%

Section: Resultsmentioning

confidence: 99%

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The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

Michelucci

Pulitano

Bonaventura

et al. 2017

Epilepsy & Behavior

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“…Autonomic manifestations, classically observed in mesial temporal lobe epilepsy, were not described in 8 families suffering from ADPEAF of European ancestry [Ottman et al, 2004]. Less frequently, other types of auras such as visual, motor, dyscognitive, and even vertigo have been reported [Dazzo et al, 2015;Klein et al, 2016].…”

Section: Autosomal Dominant Partial Epilepsy With Auditory Features/lmentioning

confidence: 95%

“…New light has been shed regarding the genetic heterogeneity of ADPEAF; a recent Italian-American study has identified 7 heterozygote missense mutations in the RELN gene in 7 families with ADPEAF showing no LGI1 mutations [Dazzo et al, 2015]. RELN encodes REELIN, a glycoprotein regulating neuronal migration [Hong et al, 2000], which does not seem to interfere with channels.…”

Section: Autosomal Dominant Partial Epilepsy With Auditory Features/lmentioning

confidence: 99%

Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects

Lascano¹,

Korff

Picard³

2016

Mol Syndromol

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Despite intensive research activity leading to many important discoveries, the pathophysiological mechanisms underlying seizures and epilepsy remain poorly understood. An important number of specific gene defects have been related to various forms of epilepsies, and autoimmunity and epilepsy have been associated for a long time. Certain central nervous system proteins have been involved in epilepsy or acute neurological diseases with seizures either due to underlying gene defects or immune dysfunction. Here, we focus on 2 of them that have been the object of particular attention and in-depth research over the past years: the N-methyl-D-aspartate receptor and the leucin-rich glioma-inactivated protein 1 (LGI1). We also describe illustrative examples of situations in which genetics and immunology meet in the complex pathways that underlie seizures and epilepsy.

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Insights into the mechanisms of epilepsy from structural biology of LGI1–ADAM22

Yamagata

Fukai

2019

Cell. Mol. Life Sci.

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Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras

Cited by 19 publications

References 27 publications

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects

Insights into the mechanisms of epilepsy from structural biology of LGI1–ADAM22

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