Magnetic Resonance Imaging Abnormalities in Familial Temporal Lobe Epilepsy With Auditory Auras

Kobayashi, Eliane; Santos, Nuno M.S. dos; Torres, Fábio R.; Secolin, Rodrigo; Sardinha, Luiz Antônio; Lopez-Cendes, Iscia; Cendes, Fernando

doi:10.1001/archneur.60.11.1546

Cited by 66 publications

(64 citation statements)

References 22 publications

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“…It is believed that the studies performed using coronal plane MRI have overestimated the actual size of the amygdala. Post-mortem studies have reported that the amygdala volume ranges from 1.1 to 1.6 cm 3 after correction for fixation-related shrinkage, but different (25)(26)(27) volumetric MRI analyses have reported values ranging from 1 to near 4 cm 3 (15,(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28). The accuracy of the volumetric MRI study of the amygdala is influenced by some factors.…”

Section: Discussionmentioning

confidence: 99%

“…However, the spatial normalization and volume correction by the intracranial volume have been used interchangeably in the literature (22,29,30) and a difference between them has not been formally assessed.…”

Section: Discussionmentioning

confidence: 99%

“…The superior limit was defined as an arbitrary line from the quadrigeminal cistern to the inferior limit of the circular sulcus of the insula. The volumes obtained were further corrected for the total intracranial volume (22).…”

Section: Volumetric Analysismentioning

confidence: 99%

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The importance of accurate anatomic assessment for the volumetric analysis of the amygdala

Bonilha

Kobayashi

Cendes

et al. 2005

Braz J Med Biol Res

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There is a wide range of values reported in volumetric studies of the amygdala. The use of single plane thick magnetic resonance imaging (MRI) may prevent the correct visualization of anatomic landmarks and yield imprecise results. To assess whether there is a difference between volumetric analysis of the amygdala performed with single plane MRI 3-mm slices and with multiplanar analysis of MRI 1-mm slices, we studied healthy subjects and patients with temporal lobe epilepsy. We performed manual delineation of the amygdala on T1-weighted inversion recovery, 3-mm coronal slices and manual delineation of the amygdala on three-dimensional volumetric T1-weighted images with 1-mm slice thickness. The data were compared using a dependent t-test. There was a significant difference between the volumes obtained by the coronal planebased measurements and the volumes obtained by three-dimensional analysis (P < 0.001). An incorrect estimate of the amygdala volume may preclude a correct analysis of the biological effects of alterations in amygdala volume. Three-dimensional analysis is preferred because it is based on more extensive anatomical assessment and the results are similar to those obtained in post-mortem studies.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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The importance of accurate anatomic assessment for the volumetric analysis of the amygdala

Bonilha

Kobayashi

Cendes

et al. 2005

Braz J Med Biol Res

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“…In 2002, mutations responsible for ADLTE/ADPEAF were identified in the leucine-rich, glioma inactivated 1 gene (LGI1; GeneID 9211; MIM] 604619) by positional cloning [Kalachikov et al, 2002;Morante-Redolat et al, 2002]. A number of ADLTE/ADPEAF families mutated in LGI1 have been described subsequently [Berkovic et al, 2004;Chabrol et al, 2007;Fertig et al, 2003;Gu et al, 2002;Hedera et al, 2004;Kobayashi et al, 2003;Michelucci et al, 2003;Ottman et al, 2004;Pisano et al, 2005;Pizzuti et al, 2003;Striano et al, 2008]. Overall, LGI1 mutations are found in about 50% of the ADLTE/ADPEAF families [Berkovic et al, 2004;Michelucci et al, 2003;Ottman et al, 2004], indicating that the syndrome is genetically heterogeneous.…”

Section: Introductionmentioning

confidence: 99%

LGI1mutations in autosomal dominant and sporadic lateral temporal epilepsy

et al. 2009

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Autosomal dominant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF) is an inherited epileptic syndrome with onset in childhood/adolescence and benign evolution. The hallmark of the syndrome consists of typical auditory auras or ictal aphasia in most affected family members. ADTLE/ADPEAF is associated in about half of the families with mutations of the leucine-rich, glioma-inactivated 1 (LGI1) gene. In addition, de novo LGI1 mutations are found in about 2% of sporadic cases with idiopathic partial epilepsy with auditory features, who are clinically similar to the majority of patients with ADLTE/ADPEAF but have no family history. Twenty-five LGI1 mutations have been described in familial and sporadic lateral temporal epilepsy patients. The mutations are distributed throughout the gene and are mostly missense mutations occurring in both the N-terminal leucine rich repeat (LRR) and C-terminal EPTP (beta propeller) protein domains. We show a tridimensional model of the LRR protein region that allows missense mutations of this region to be divided into two distinct groups: structural and functional mutations. Frameshift, nonsense and splice site point mutations have also been reported that result in protein truncation or internal deletion. The various types of mutations are associated with a rather homogeneous phenotype, and no obvious genotypephenotype correlation can be identified. Both truncating and missense mutations appear to prevent secretion of mutant proteins, suggesting a loss of function effect of mutations. The function of LGI1 is unclear. Several molecular mechanisms possibly leading to lateral temporal epilepsy are illustrated and briefly discussed.

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“…EEG was reported as normal or showing nonspecific changes in about one third of the patients [Michelucci et al, 2013]. Structural MRI is sought to be unremarkable; however, subtle focal abnormalities such as temporal lobe enlargement or atrophy have been rarely described [Kobayashi et al, 2003;Tessa et al, 2007].…”

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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Magnetic Resonance Imaging Abnormalities in Familial Temporal Lobe Epilepsy With Auditory Auras

Abstract: In this family with FTLE with auditory auras, we found developmental abnormalities in the lateral cortex of the temporal lobes in 53% of the affected individuals. In contrast with mesial FTLE, none of the affected individuals had MRI evidence of hippocampal sclerosis.

Cited by 66 publications

References 22 publications

The importance of accurate anatomic assessment for the volumetric analysis of the amygdala

The importance of accurate anatomic assessment for the volumetric analysis of the amygdala

LGI1mutations in autosomal dominant and sporadic lateral temporal epilepsy

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

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