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1.
Epilepsia Open ; 9(1): 355-367, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38093701

RESUMEN

OBJECTIVE: Neuroimaging studies reveal frontal lobe (FL) contributions to memory encoding. Accordingly, memory impairments are documented in frontal lobe epilepsy (FLE). Still, little is known about the structural or functional correlates of such impairments. Particularly, material specificity of functional changes in cerebral activity during memory encoding in FLE is unclear. METHODS: We compared 24 FLE patients (15 right-sided) undergoing presurgical evaluation with 30 healthy controls on a memory fMRI-paradigm of learning scenes, faces, and words followed by an out-of-scanner recognition task as well as regarding their mesial temporal lobe (mTL) volumes. We also addressed effects of FLE lateralization and performance level (normal vs. low). RESULTS: FLE patients had poorer memory performance and larger left hippocampal volumes than controls. Volume increase seemed, however, irrelevant or even dysfunctional for memory performance. Further, functional changes in FLE patients were right-sided for scenes and faces and bilateral for words. In detail, during face encoding, FLE patients had, regardless of their performance level, decreased mTL activation, while during scene and word encoding only low performing FLE patients had decreased mTL along with decreased FL activation. Intact verbal memory performance was associated with higher right frontal activation in FLE patients but not in controls. SIGNIFICANCE: Pharmacoresistant FLE has a distinct functional and structural impact on the mTL. Effects vary with the encoded material and patients' performance levels. Thus, in addition to the direct effect of the FL, memory impairment in FLE is presumably to a large part due to functional mTL changes triggered by disrupted FL networks. PLAIN LANGUAGE SUMMARY: Frontal lobe epilepsy (FLE) patients may suffer from memory impairment. Therefore, we asked patients to perform a memory task while their brain was scanned by MRI in order to investigate possible changes in brain activation during learning. FLE patients showed changes in brain activation during learning and also structural changes in the mesial temporal lobe, which is a brain region especially relevant for learning but not the origin of the seizures in FLE. We conclude that FLE leads to widespread changes that contribute to FLE patients' memory impairment.


Asunto(s)
Epilepsia del Lóbulo Frontal , Humanos , Epilepsia del Lóbulo Frontal/diagnóstico por imagen , Epilepsia del Lóbulo Frontal/cirugía , Epilepsia del Lóbulo Frontal/complicaciones , Memoria/fisiología , Convulsiones , Lóbulo Temporal/diagnóstico por imagen , Lóbulo Temporal/cirugía , Lóbulo Temporal/fisiología , Trastornos de la Memoria/diagnóstico por imagen , Trastornos de la Memoria/complicaciones , Imagen por Resonancia Magnética/métodos
2.
Epilepsy Behav ; 148: 109471, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37866248

RESUMEN

RATIONALE: The International Classification of Cognitive Disorders in Epilepsy (IC-CoDE) was recently introduced as a consensus-based, empirically-driven taxonomy of cognitive disorders in epilepsy and has been effectively applied to patients with temporal lobe epilepsy (TLE). The purpose of this study was to apply the IC-CoDE to patients with frontal lobe epilepsy (FLE) using national multicenter data. METHODS: Neuropsychological data of 455 patients with FLE aged 16 years or older were available across four US-based sites. First, we examined test-specific impairment rates across sites using two impairment thresholds (1.0 and 1.5 standard deviations below the normative mean). Following the proposed IC-CoDE guidelines, patterns of domain impairment were determined based on commonly used tests within five cognitive domains (language, memory, executive functioning, attention/processing speed, and visuospatial ability) to construct phenotypes. Impairment rates and distributions across phenotypes were then compared with those found in patients with TLE for which the IC-CoDE classification was initially validated. RESULTS: The highest rates of impairment were found among tests of naming, verbal fluency, speeded sequencing and set-shifting, and complex figure copy. The following IC-CoDE phenotype distributions were observed using the two different threshold cutoffs: 23-40% cognitively intact, 24-29% single domain impairment, 13-20% bi-domain impairment, and 18-33% generalized impairment. Language was the most common single domain impairment (68% for both thresholds) followed by attention and processing speed (15-18%). Overall, patients with FLE reported higher rates of cognitive impairment compared with patients with TLE. CONCLUSIONS: These results demonstrate the applicability of the IC-CoDE to epilepsy syndromes outside of TLE. Findings indicated generally stable and reproducible phenotypes across multiple epilepsy centers in the U.S. with diverse sample characteristics and varied neuropsychological test batteries. Findings also highlight opportunities for further refinement of the IC-CoDE guidelines as the application expands.


Asunto(s)
Trastornos del Conocimiento , Disfunción Cognitiva , Epilepsia del Lóbulo Frontal , Epilepsia del Lóbulo Temporal , Humanos , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/diagnóstico , Epilepsia del Lóbulo Frontal/psicología , Función Ejecutiva , Epilepsia del Lóbulo Temporal/complicaciones , Epilepsia del Lóbulo Temporal/psicología , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/etiología , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Pruebas Neuropsicológicas , Cognición
3.
Epilepsy Behav ; 139: 109063, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36621207

RESUMEN

BACKGROUND AND AIMS: Headache disorders cause significant distress in patients living with epilepsy (PWE) and are underreported. This study aimed to evaluate the prevalence of various forms of headache in PWE. METHODOLOGY: Two hundred and three PWE were evaluated for the presence and type of headache as per the International Classification of Headache Disorders (ICHD)-3 classification criteria. The severity was graded using the Headache Under Response to Treatment (HURT)-3. A subgroup analysis of headache and epilepsy was done. The World Health Organization-5 (WHO-5) questionnaire was used to assess mental well-being. The Mini International Neuropsychiatric Interview (MINI) questionnaire was used to study the psychiatric comorbidities, which were classified according to the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV classification. RESULTS: The prevalence of headaches in PWE was 45% [60% females]. Female gender and younger age were significantly associated with migraine (p values of 0.03 and 0.05, respectively). Migraine was the most common type of headache (71%), followed by tension-type headache (TTH) (23%) in PWE. The headache was inter-ictal in 80% of PWE. In PWE with migraine, both juvenile myoclonic epilepsy (JME) and frontal lobe epilepsy (FLE) had a 28% prevalence. In PWE with TTH, FLE was more common (43%). The prevalence of migralepsy in PWE was 4% [n = 4; 2 each of occipital lobe epilepsy (OLE) and idiopathic generalized epilepsy (IGE)]. A psychiatric illness was more than two times more likely in PWE with headache (n = 34; 37%) as compared to PWE without headache (n = 19; 17%). Patients living with epilepsy with headaches and psychiatric comorbidities had significantly lower mental well-being (p = 0.001). Forty five percent of PWE with headaches required acute management, and 35% required prophylactic management for their headache. CONCLUSION: Headache is frequently ignored in PWE. It can affect their mental health and quality of life. Evaluation and management of headache in PWE is very important.


Asunto(s)
Epilepsia del Lóbulo Frontal , Trastornos de Cefalalgia , Trastornos Migrañosos , Epilepsia Mioclónica Juvenil , Humanos , Femenino , Masculino , Prevalencia , Calidad de Vida , Cefalea/complicaciones , Cefalea/epidemiología , Cefalea/diagnóstico , Trastornos de Cefalalgia/complicaciones , Trastornos de Cefalalgia/epidemiología , Trastornos Migrañosos/diagnóstico , Epilepsia Mioclónica Juvenil/complicaciones , Epilepsia del Lóbulo Frontal/complicaciones
4.
Neurology ; 98(22): e2211-e2223, 2022 05 31.
Artículo en Inglés | MEDLINE | ID: mdl-35190463

RESUMEN

BACKGROUND AND OBJECTIVES: Cingulate epilepsy (CE) is a rare type of focal epilepsy that is challenging to diagnose because of the polymorphic semiology of the seizures, mimicking other types of epilepsy, and the limited utility of scalp EEG. METHODS: We selected consecutive patients with drug-resistant CE who were seizure-free after surgery, with seizure onset zone (SOZ) confirmed in the cingulate cortex (CC) by histology or stereo EEG. We analyzed subjective and objective ictal manifestations using video recordings and correlated semiology with anatomical CC subregion (anterior, anterior middle, posterior middle, and posterior) localization of SOZ. RESULTS: We analyzed 122 seizures in 57 patients. Seizures were globally characterized by complex behaviors, typically natural seeming and often accompanied by emotional components. All objective ictal variables considered (pronation of the body or arising from a lying/sitting position, tonic/dystonic posturing, hand movements, asymmetry, vocalizations, fluidity and repetitiveness of motor manifestations, awareness, and emotional and autonomic components) were differently distributed among CC subregions (p < 0.05). Along the rostro-caudal axis, fluidity and repetitiveness of movement, vocalizations, body pronation, and emotional components decreased anterior-posteriorly, whereas tonic/dystonic postures, signs of lateralization, and awareness increased. Vestibular and asymmetric somatosensory, somatosensory, and epigastric and enteroceptive/autonomic symptoms were distributed differently among CC subregions (p < 0.05). Along the rostro-caudal axis, vestibular, somatosensory, and somatosensory asymmetric symptoms increased anterior-posteriorly. DISCUSSION: CE is characterized by a spectrum of semiologic manifestations with a topographic distribution. CE semiology could indicate which cingulate sector is primarily involved.


Asunto(s)
Epilepsias Parciales , Epilepsia del Lóbulo Frontal , Estudios de Cohortes , Electroencefalografía , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/diagnóstico , Epilepsia del Lóbulo Frontal/cirugía , Humanos , Convulsiones
5.
Neurol India ; 69(3): 737-739, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34169879

RESUMEN

BACKGROUND: Mechanisms involved in the causation of sudden unexpected death in epilepsy (SUDEP) are not well understood. Ictal asystole has been identified as a cause of SUDEP in patients with temporal lobe epilepsy. Herein, we report a patient who developed cardiac arrest during the ictal period of frontal lobe epilepsy. CASE REPORT: A 35-year-old man presented with a history of progressive nocturnal stiffness in the left lower extremity since 6 years and that of paroxysmal episodes of altered consciousness. In the last 2 years, he sustained epileptic seizures which presented as closed eyes, wheezy phlegm in the throat, facial pallor, moist cold skin, clenched fists, and limb stiffness; the episodes lasted 3-4 min. The seizures did not respond to antiepileptic therapy. Twenty four-hour electrocardiography monitoring showed transient atrial tachycardia, supraventricular premature beats, and cardiac arrest. CONCLUSION: Frontal lobe epilepsy may be a potential cause of SUDEP. Clinician should be aware of this condition.


Asunto(s)
Epilepsia del Lóbulo Frontal , Paro Cardíaco , Muerte Súbita e Inesperada en la Epilepsia , Adulto , Electroencefalografía , Epilepsia del Lóbulo Frontal/complicaciones , Paro Cardíaco/complicaciones , Humanos , Masculino , Convulsiones
6.
Neuroimage ; 235: 117998, 2021 07 15.
Artículo en Inglés | MEDLINE | ID: mdl-33789131

RESUMEN

The pressing call to detect sensitive cognitive markers of frontal lobe epilepsy (FLE) remains poorly addressed. Standard frameworks prove nosologically unspecific (as they reveal deficits that also emerge across other epilepsy subtypes), possess low ecological validity, and are rarely supported by multimodal neuroimaging assessments. To bridge these gaps, we examined naturalistic action and non-action text comprehension, combined with structural and functional connectivity measures, in 19 FLE patients, 19 healthy controls, and 20 posterior cortex epilepsy (PCE) patients. Our analyses integrated inferential statistics and data-driven machine-learning classifiers. FLE patients were selectively and specifically impaired in action comprehension, irrespective of their neuropsychological profile. These deficits selectively and specifically correlated with (a) reduced integrity of the anterior thalamic radiation, a subcortical structure underlying motoric and action-language processing as well as epileptic seizure spread in this subtype; and (b) hypoconnectivity between the primary motor cortex and the left-parietal/supramarginal regions, two putative substrates of action-language comprehension. Moreover, machine-learning classifiers based on the above neurocognitive measures yielded 75% accuracy rates in discriminating individual FLE patients from both controls and PCE patients. Briefly, action-text assessments, combined with structural and functional connectivity measures, seem to capture ecological cognitive deficits that are specific to FLE, opening new avenues for discriminatory characterizations among epilepsy types.


Asunto(s)
Corteza Cerebral/diagnóstico por imagen , Disfunción Cognitiva/diagnóstico , Epilepsia del Lóbulo Frontal/diagnóstico , Lenguaje , Sustancia Blanca/diagnóstico por imagen , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Disfunción Cognitiva/etiología , Disfunción Cognitiva/patología , Disfunción Cognitiva/fisiopatología , Conectoma , Imagen de Difusión Tensora , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/patología , Epilepsia del Lóbulo Frontal/fisiopatología , Humanos , Pruebas del Lenguaje , Aprendizaje Automático , Imagen por Resonancia Magnética , Imagen Multimodal , Pruebas Neuropsicológicas , Sustancia Blanca/patología , Sustancia Blanca/fisiopatología
7.
Appl Neuropsychol Child ; 10(2): 101-110, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31092008

RESUMEN

Thirty-two children with frontal lobe epilepsy (FLE) were assessed using different working memory measures. In addition, parents and teachers completed the working memory scale of the Behavioral Rating Inventory of Executive Functioning (BRIEF) to assess the children's "daily life behavior." Results suggested minimal working memory deficits as assessed with performance-based measures. However, the BRIEF showed more working memory deficits suggesting that, on a daily life level, working memory problems seem to be associated with FLE. We discuss why the results of the performance-based measures are not consistent with results of the BRIEF.HighlightsParents as well as teachers report working memory dysfunction in daily life to the same extent.Performance based measures show minimal deficits of working memory.Correlation between working memory tasks and proxy measures are low.


Asunto(s)
Epilepsia del Lóbulo Frontal , Niño , Epilepsia del Lóbulo Frontal/complicaciones , Función Ejecutiva , Lóbulo Frontal , Humanos , Trastornos de la Memoria , Memoria a Corto Plazo , Pruebas Neuropsicológicas
8.
J Int Med Res ; 48(9): 300060520946166, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32877235

RESUMEN

Frontal lobe epilepsy is a common neurological disorder with a broad spectrum of symptoms. Frontal lobe epilepsy presenting with vertigo is extremely rare, and the relevant pathogenesis remains unclear. Herein, we report a case of frontal lobe epilepsy manifesting as vertigo, and we review the relevant literature. A 34-year-old woman presented with a 10-year history of general tonic-clonic seizures. In the month prior to admission, she experienced nocturnal seizures on two occasions. Video electroencephalogram monitoring showed frequent clinical seizures during which the patient felt transient vertigo. The ictal electroencephalogram revealed a medium-amplitude spike and slow wave complex originating from the frontal lobes. The patient was treated with oral sodium valproate, levetiracetam, and lamotrigine. After a 6-month follow-up period, her seizures were well controlled. Our findings expand the symptom spectrum of epilepsy, suggesting that vertigo can be an uncommon clinical manifestation of frontal lobe epilepsy. Although the pathological correlation between vertigo and epilepsy remains elusive, our findings indicate that vestibular cortical neurons may participate in periodic epileptiform discharges of the frontal lobe. Clinicians should be aware of a potential diagnosis of epilepsy in patients presenting with vertigo as the onset symptom because this condition is usually underdiagnosed.


Asunto(s)
Epilepsia del Lóbulo Frontal , Adulto , Anticonvulsivantes/uso terapéutico , Electroencefalografía , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/diagnóstico , Epilepsia del Lóbulo Frontal/tratamiento farmacológico , Femenino , Humanos , Convulsiones/tratamiento farmacológico , Vértigo/etiología
9.
Clin Neurol Neurosurg ; 191: 105697, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32028129

RESUMEN

OBJECTIVES: Sexual dysfunctions [SDs] are common in women with epilepsy [WWE] but related studies were neglected in our locality. We aimed to determine the frequencies and severities of SDs and their clinical, hormonal and psychological determinants in WWE. PATIENTS AND METHODS: This study included 120 adults [mean age: 36.35 ± 2.89yrs] with temporal [63.33 %] and frontal [36.67 %] lobe epilepsies and treated with carbamazepine [CBZ] [n = 60] or oxcarbazepine [OXC] [n = 60] for mean duration of 18.63 ± 4.33yrs. Patients were assessed using Female Sexual Function Index [FSFI] questionnaire, Beck Depression Inventory [BDI-II] and Hamilton Anxiety Rating Scale [HAM-A]. Total testosterone, sex hormone binding globulin [SHBG] and free androgen index [FAI] were measured to assess endocrinal status. PATIENTS AND METHODS: This study included 120 adults [mean age: 36.35 ± 2.89yrs] with temporal [63.33 %] and frontal [36.67 %] lobe epilepsies and treated with carbamazepine [CBZ] [n = 60] or oxcarbazepine [OXC] [n = 60] for mean duration of 18.63 ± 4.33yrs. Patients were assessed using Female Sexual Function Index [FSFI] questionnaire, Beck Depression Inventory [BDI-II] and Hamilton Anxiety Rating Scale [HAM-A]. Total testosterone, sex hormone binding globulin [SHBG] and free androgen index [FAI] were measured to assess endocrinal status. RESULTS: The majority had occasional/rare frequency of seizures [76.67 %] and well controlled on antiepileptic drugs [AEDs] [81.67 %]. Compared to healthy women, WWE had lower total testosterone and FAI and higher SHBG levels. Compared to women on CBZ, those on OXC had lower frequency and well controlled seizures on medication [P = 0.0001 for both], higher testosterone [P = 0.01] and FAI [P = 0.001] and lower SHBG [P = 0.001] levels. Compared to controls, WWE had significantly higher frequencies and severities of SDs [total sexual function, desire, arousal, lubrication, orgasm, satisfaction and pain] and depression and anxiety symptoms. OXC therapy was associated with lower SDs [FSFI: P = 0.033] and anxiety symptoms [P = 0.025] compared to CBZ therapy. In multiple logistic regression analyses, determinants of SDs were the higher seizures frequency, increasing severities of depression and anxiety but not lower androgen levels or type of epilepsy or AEDs. CONCLUSIONS: Different aspects of SD and depression and anxiety symptoms were frequent in WWE. Determinants of SDs were the higher frequency of seizures and increasing severities of depression and anxiety. OXC had better control on seizures and thus lower frequencies and severities of SDs and depression and anxiety symptoms. Thus optimizing seizure control is important for psychological state and healthy sexual function in WWE.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Ansiedad/psicología , Depresión/psicología , Epilepsia del Lóbulo Frontal/tratamiento farmacológico , Epilepsia del Lóbulo Temporal/tratamiento farmacológico , Disfunciones Sexuales Fisiológicas/fisiopatología , Adulto , Carbamazepina/uso terapéutico , Egipto , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/fisiopatología , Epilepsia del Lóbulo Frontal/psicología , Epilepsia del Lóbulo Temporal/complicaciones , Epilepsia del Lóbulo Temporal/fisiopatología , Epilepsia del Lóbulo Temporal/psicología , Femenino , Humanos , Persona de Mediana Edad , Oxcarbazepina/uso terapéutico , Globulina de Unión a Hormona Sexual/metabolismo , Disfunciones Sexuales Fisiológicas/complicaciones , Disfunciones Sexuales Fisiológicas/metabolismo , Disfunciones Sexuales Fisiológicas/psicología , Testosterona/metabolismo , Adulto Joven
10.
Epilepsy Behav ; 102: 106645, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31760200

RESUMEN

Executive dysfunction and behavioral problems are common in children with epilepsy. Inhibition and shifting, both aspects of cognitive control, seem related to behavior problems and are thought to be driven mainly by the frontal lobes. We investigated if inhibition and shifting deficits are present in children with frontal lobe epilepsy (FLE). Secondly, we studied the relationship between these deficits and behavior problems. Thirty-one children were administered the Stroop Color Word Test and a digital version of the Wisconsin Card Sorting Test (WCST). Parents completed the Behavioral Rating Inventory for Executive Function (BRIEF) and the Achenbach scale (Child Behavior Checklist (CBCL)). About 20% of the children displayed significant low results on the Stroop Effect. About 60% showed shifting problems on the WCST. Parents reported cognitive control and behavioral deficits in about a third of the children. Also, behavioral problems and deficits in inhibition and shifting in daily life (BRIEF) seem to be related. There were no correlations between questionnaires and the Stroop and the WCST. Only in the group of children with many perseverative errors there were especially high correlations between Inhibit of the BRIEF.


Asunto(s)
Trastornos del Conocimiento/psicología , Epilepsia del Lóbulo Frontal/psicología , Niño , Trastornos de la Conducta Infantil/etiología , Trastornos de la Conducta Infantil/psicología , Conducta de Elección , Trastornos del Conocimiento/etiología , Epilepsia del Lóbulo Frontal/complicaciones , Función Ejecutiva , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Test de Stroop , Encuestas y Cuestionarios
11.
Epilepsy Behav ; 99: 106487, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31476730

RESUMEN

There is controversy in the literature as to how dissociable frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE) are in terms of memory deficits. Some researchers have demonstrated that FLE is associated with greater executive dysfunction including working memory, whereas TLE is associated with greater memory impairment. Others have found the two groups to be comparable in memory functioning. Hence, we examined this question in children with FLE and TLE versus typically developing controls. We found most of the expected effects when the groups with focal onset epilepsy were compared to controls. Specifically, children with left TLE performed worse on verbal short-term memory/learning and long-term memory measures. In contrast, children with right TLE exhibited a more global pattern of difficulty on short-term memory/learning measures but performed worse than controls on long-term memory for faces. Children with FLE performed worse than controls on verbal working memory. Nevertheless, laterality effects were mild, as children with right and left TLE did not differ significantly from each other. Further, children with FLE did not differ from those with TLE on most measures except delayed facial recognition, where children with right TLE performed worse. In addition, attention problems and poor behavioral regulation were related to encoding problems in both the total epilepsy sample and in children with TLE specifically. Hence, our findings overall are consistent with prior studies indicating that children with TLE and FLE are commensurate in most aspects of memory impairment when compared to each other, likely related to rapid propagation between the frontal and temporal lobes, as would be expected with an excitatory lesion.


Asunto(s)
Epilepsia del Lóbulo Frontal/fisiopatología , Epilepsia del Lóbulo Temporal/fisiopatología , Trastornos de la Memoria/fisiopatología , Adolescente , Niño , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Temporal/complicaciones , Femenino , Humanos , Masculino , Trastornos de la Memoria/etiología , Pruebas Neuropsicológicas
12.
Epilepsia ; 60(6): e67-e73, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-31111464

RESUMEN

Despite tremendous progress through next generation sequencing technologies, familial focal epilepsies are insufficiently understood. We sought to identify the genetic basis in multiplex Palestinian families with familial focal epilepsy with variable foci (FFEVF). Family I with 10 affected individuals and Family II with five affected individuals underwent detailed phenotyping over three generations. The phenotypic spectrum of the two families varied from nonlesional focal epilepsy including nocturnal frontal lobe epilepsy to severe structural epilepsy due to hemimegalencephaly. Whole-exome sequencing and single nucleotide polymorphism array analysis revealed pathogenic variants in NPRL3 in each family, a partial ~38-kb deletion encompassing eight exons (exons 8-15) and the 3'-untranslated region of the NPRL3 gene in Family I, and a de novo nonsense variant c.1063C>T, p.Gln355* in Family II. Furthermore, we identified a truncating variant in the PDCD10 gene in addition to the NPRL3 variant in a patient with focal epilepsy from Family I. The individual also had developmental delay and multiple cerebral cavernomas, possibly demonstrating a digenic contribution to the individual's phenotype. Our results implicate the association of NPRL3 with hemimegalencephaly, expanding the phenotypic spectrum of NPRL3 in FFEVF and underlining that partial deletions are part of the genotypic spectrum of NPRL3 variants.


Asunto(s)
Epilepsias Parciales/complicaciones , Epilepsias Parciales/genética , Proteínas Activadoras de GTPasa/genética , Megalencefalia/etiología , Megalencefalia/genética , Adolescente , Adulto , Edad de Inicio , Proteínas Reguladoras de la Apoptosis/genética , Niño , Preescolar , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/genética , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/genética , Exoma/genética , Familia , Femenino , Eliminación de Gen , Variación Genética , Genotipo , Humanos , Lactante , Masculino , Proteínas de la Membrana/genética , Linaje , Polimorfismo de Nucleótido Simple/genética , Proteínas Proto-Oncogénicas/genética
13.
Epileptic Disord ; 21(2): 154-165, 2019 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-31010798

RESUMEN

Hyperkinetic seizures are usually associated with frontal lobe epilepsy. However, some patients have hyperkinetic seizures of temporal lobe origin. The semiological differences in hyperkinetic seizures between frontal and temporal lobe epilepsy have not been well studied. Here, we retrospectively assessed ictal semiology in order to distinguish between hyperkinetic seizures of frontal lobe origin and those of temporal lobe origin. We retrospectively reviewed data on patients who had undergone surgery for hyperkinetic seizures of temporal or frontal lobe origin and achieved favourable seizure outcomes (Engel Class I) with a minimum postoperative follow-up of 24 months. We reviewed seizure histories, imaging reports, video-EEG monitoring data, operative records, and pathological findings. We analysed and compared the hyperkinetic semiology of video-recorded seizures of temporal lobe origin and those of frontal lobe origin. Forty hyperkinetic seizures in eight patients (seven adult patients and one 12-year-old patient) with temporal lobe epilepsy and 45 hyperkinetic seizures in nine patients (eight adult patients and one 16-year-old patient) with frontal lobe epilepsy were analysed. Emotional facial expressions (such as fear, laughing, or anger), bilateral forceful elbow flexion, bilateral forceful grasping, facial flushing, and bilateral facial contraction were observed significantly more frequently in seizures of frontal lobe origin. Oroalimentary automatisms, seizures during wakefulness, salivation, and bilateral drop of the corners of the mouth were observed significantly more frequently in seizures of temporal lobe origin. Observation of a number of signs during hyperkinetic manifestations may help to predict whether a seizure originates from the frontal lobe or the temporal lobe.


Asunto(s)
Discinesias/fisiopatología , Epilepsia del Lóbulo Frontal/fisiopatología , Epilepsia del Lóbulo Temporal/fisiopatología , Adolescente , Adulto , Niño , Discinesias/etiología , Electroencefalografía , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/diagnóstico , Epilepsia del Lóbulo Frontal/cirugía , Epilepsia del Lóbulo Temporal/complicaciones , Epilepsia del Lóbulo Temporal/diagnóstico , Epilepsia del Lóbulo Temporal/cirugía , Estudios de Seguimiento , Humanos , Estudios Retrospectivos , Grabación en Video , Adulto Joven
14.
Epilepsy Behav ; 94: 269-276, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30981983

RESUMEN

BACKGROUND: Emotional disturbances have been reported in patients with epilepsy. Although conflicting results emanate from relevant studies, depressive symptoms are seen more often in temporal lobe epilepsy (TLE) whereas, hypomanic/manic symptoms usually accompany frontal lobe epilepsy (FLE); the above psychiatric symptoms are especially seen in refractory epilepsy. However, neocortical TLE and medial TLE are considered as distinct epileptic syndromes, and there is limited literature on comparison of affective traits in medial TLE (MTLE) and FLE. AIM: In the present study, we sought to investigate affective traits among epilepsy surgery candidates suffering refractory left medial TLE (LMTLE), right medial TLE (RMTLE), left FLE (LFLE), and right FLE (RFLE). RESULTS: Our results revealed that patients with MTLE scored significantly higher than the ones with FLE in depression, anxiety, asthenia, and melancholia as measured by the Symptoms Rating Scale for Depression and Anxiety (SRSDA), while patients with FLE scored significantly higher in mania than those with MTLE. Moreover, patients with MTLE scored significantly higher than their FLE counterparts on the anxiety scale of the State Trait Personality Inventory (STPI)-trait version. When laterality of the seizure focus was taken into account, no differences were found among both patients with MTLE and patients with FLE, with exception for the Trail Making Test part B (TMT-B) in which patients with RMTLE performed significantly worse than patients with LMTLE. Seizure frequency was higher for FLE. CONCLUSIONS: We provide evidence for an anterior-frontal versus a posterior-medial temporal cerebral functional asymmetry with regard to the manifestation of manic and depressive emotional traits in FLE and MTLE, respectively. Our results are mainly discussed within the frame of their contribution in localizing and to a lesser extent in lateralizing seizures foci in epilepsy surgery candidates. We suggest that this is of great importance in the context of preoperative monitoring of epilepsy surgery, especially when neuropsychologists are called upon to provide anatomical information in defining the functional deficit zone.


Asunto(s)
Síntomas Afectivos/fisiopatología , Trastorno Bipolar/fisiopatología , Trastorno Depresivo/fisiopatología , Epilepsia Refractaria/fisiopatología , Epilepsia del Lóbulo Frontal/fisiopatología , Epilepsia del Lóbulo Temporal/fisiopatología , Lateralidad Funcional/fisiología , Adulto , Síntomas Afectivos/etiología , Trastorno Bipolar/etiología , Trastorno Depresivo/etiología , Epilepsia Refractaria/complicaciones , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Temporal/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
15.
Cephalalgia ; 39(9): 1195-1199, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-30880433

RESUMEN

BACKGROUND AND OBJECTIVES: Ictal epileptic headache is a rare form of painful seizure, habitually consisting of migrainous or tension-type headache. We describe a case of a patient with short-lasting, severe retroorbital pain attacks caused by frontal lobe epilepsy. CASE REPORT: A 25-year-old male patient presented with recurrent attacks of paroxysmal, short-lasting, excruciating left periorbital and facial pain mainly occurring from sleep. After intracranial EEG exploration and resection of a right prefrontal focal cortical dysplasia, long-term seizure and headache remission was obtained. DISCUSSION: Our case extends the clinical and neuroanatomical spectrum of ictal epileptic headache and suggests that long-term remission can be obtained by resective epilepsy surgery. It also reinforces the role of the prefrontal cortex in the pain matrix and pain generation. CONCLUSION: Despite its rarity, ictal epileptic headache should be suspected in selected patients, particularly those with other ictal symptoms and signs, history of epileptic seizures, or neuroimaging abnormalities.


Asunto(s)
Epilepsia del Lóbulo Frontal/complicaciones , Cefalea/etiología , Convulsiones/etiología , Adulto , Electroencefalografía , Epilepsia del Lóbulo Frontal/diagnóstico , Epilepsia del Lóbulo Frontal/cirugía , Humanos , Imagen por Resonancia Magnética , Masculino , Malformaciones del Desarrollo Cortical/complicaciones , Malformaciones del Desarrollo Cortical/diagnóstico , Malformaciones del Desarrollo Cortical/cirugía
17.
Neurosurgery ; 83(1): 93-103, 2018 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-29106684

RESUMEN

BACKGROUND: Although frontal lobe resections account for one-third of intralobar resections in pediatric epilepsy surgery, there is a dearth of information regarding long-term seizure freedom, overall cognitive and adaptive functioning. OBJECTIVE: To identify outcome predictors and define the appropriate timing for surgery. METHODS: We retrospectively analyzed the data of 75 consecutive patients aged 10.0 ± 4.9 yr at surgery that had an 8.1 yr mean follow-up. RESULTS: Etiology comprised focal cortical dysplasia (FCD) in 71% and benign tumors in 16% cases. All patients but one had a magnetic resonance imaging-visible lesion. At last follow-up, 63% patients remained seizure-free and 37% had discontinued antiepileptic drugs. Presurgical predictors of seizure freedom were a shorter epilepsy duration, strictly regional epileptic discharges in electroencephalography (EEG), and an epileptogenic zone and/or lesion distant from eloquent cortex. Postsurgical predictors were the completeness of resection and the lack of early postoperative seizures or epileptic discharges in EEG. Higher presurgical overall cognitive and adaptive functioning was related to later epilepsy onset and to a sublobar epileptogenic zone and/or lesion. Following surgery, scores remained stable in the majority of patients. Postsurgical gains were determined by higher presurgical performance and tumors vs FCD. CONCLUSION: Our findings highlight the favorable long-term outcomes following frontal lobe epilepsy surgery in childhood and adolescence and underline the importance of early surgical intervention in selected candidates. Early postsurgical relapses and epileptic discharges in EEG constitute key markers of treatment failure and should prompt timely reevaluation. Postsurgical overall cognitive and adaptive functioning is stable in most patients, whereas those with benign tumors have higher chances of improvement.


Asunto(s)
Epilepsia del Lóbulo Frontal/cirugía , Resultado del Tratamiento , Adolescente , Corteza Cerebral/cirugía , Niño , Preescolar , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/patología , Femenino , Humanos , Masculino , Procedimientos Neuroquirúrgicos/métodos , Pronóstico , Estudios Retrospectivos , Convulsiones/etiología , Convulsiones/prevención & control , Factores de Tiempo
18.
BMJ Case Rep ; 20172017 Dec 13.
Artículo en Inglés | MEDLINE | ID: mdl-29237665

RESUMEN

An 82-year-old man was admitted to the emergency department following bizarre behaviour. Police had noticed him driving erratically through his village. He did not stop when instructed, drove slowly home and appeared 'vacant' on questioning. While in hospital, he had approximately 15 episodes of catatonia, involving rigidity, negativism, mutism except echolalia and perseveration, automatic obedience and utilisation phenomena, lasting 2-20 min each. Between episodes, he was amnestic but otherwise well. Electroencephalography demonstrated bifrontal slowing with left-sided emphasis, and captured two focal onset partial seizures with the clinical correlate of the syndrome described above. He improved rapidly on levetiracetam and lorazepam, was discharged and received a diagnosis of dementia by his community mental health team shortly afterwards, based on chronic short-term memory loss, functional decline and MRI changes. This case has implications for our understanding of the neural correlate of catatonia, specifically frontal lobe pathway dysfunction.


Asunto(s)
Automatismo/diagnóstico , Catatonia/diagnóstico , Demencia , Epilepsia del Lóbulo Frontal/diagnóstico , Anciano de 80 o más Años , Anticonvulsivantes/administración & dosificación , Anticonvulsivantes/uso terapéutico , Automatismo/complicaciones , Automatismo/diagnóstico por imagen , Automatismo/tratamiento farmacológico , Catatonia/complicaciones , Catatonia/diagnóstico por imagen , Catatonia/tratamiento farmacológico , Diagnóstico Diferencial , Electroencefalografía , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/diagnóstico por imagen , Epilepsia del Lóbulo Frontal/tratamiento farmacológico , Humanos , Levetiracetam , Lorazepam/administración & dosificación , Lorazepam/uso terapéutico , Imagen por Resonancia Magnética , Masculino , Piracetam/administración & dosificación , Piracetam/análogos & derivados , Piracetam/uso terapéutico
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