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1.
J Child Neurol ; 37(5): 340-350, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35072530

RESUMEN

BACKGROUND: Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. METHODS: The study was carried out in 15 patients with SCN1A variants. The complete phenotype of the patients was evaluated. A systematic search was carried out in the scientific literature for those unexpected symptoms. RESULTS: Ten patients showed a missense variant, whereas the remaining showed different loss-of-function variants. Twelve (80%) had Dravet syndrome. Two (13.3%) had Epilepsy with febrile seizures plus. Three (20%) presented an atypical phenotype. One of them was developmental and epileptic encephalopathy with arthrogryposis, the other Dravet syndrome and movement disorder, and lastly one patient had Dravet syndrome and malformations of the cortical development. CONCLUSION: The exhaustive assessment of patients with pathogenic alterations detected in massive sequencing can help us to expand the phenotype, understand the etiopathogenesis associated with each genetic abnormality, and thus improve the prognosis and management of future patients.


Asunto(s)
Artrogriposis , Epilepsias Mioclónicas , Malformaciones del Desarrollo Cortical , Trastornos del Movimiento , Espasmos Infantiles , Artrogriposis/genética , Epilepsias Mioclónicas/genética , Síndromes Epilépticos , Humanos , Trastornos del Movimiento/genética , Canal de Sodio Activado por Voltaje NAV1.1/genética , Fenotipo
2.
Acta Neurol Scand ; 144(5): 585-591, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34132388

RESUMEN

BACKGROUND: Anti-seizure medications (ASMs) have been related to poor cognitive function, but their relationship with intracarotid amobarbital procedure (IAP) results remains unclear. AIMS OF THE STUDY: To elucidate whether the number and drug load of ASMs are associated with memory scores of the IAP and the neuropsychological assessment. METHODS: Fifty-nine adult patients with drug-resistant epilepsy (mean age = 36.1, SD = 11.6) underwent bilateral IAP (with drawings and words as memory items) and a neuropsychological assessment to assess the risk of post-surgical memory decline. Total ASM drug load was calculated by summing the daily dose/defined daily dose ratio of every ASM of each patient. Pearson's correlations and hierarchical regressions were computed. RESULTS: Total IAP memory score was associated with total ASM drug load (r = -0.30, p = 0.02) and seizure frequency (r = -0.25, p = 0.05). After controlling clinical variables, total ASM drug load explained 16% of the variance of total IAP memory score. This relationship was especially prominent in patients with left hemisphere focus (r = -0.33, p = 0.04). The number of current ASMs was not related to IAP memory score (r = -0.16, p = 0.24). The number or drug load of ASMs were not related to neuropsychological assessment results (for all, p > 0.07). CONCLUSIONS: Our findings suggest that total drug load can be a confounding variable in the IAP memory performance that could explain, at least in part, the reverse asymmetries reported in different studies.


Asunto(s)
Epilepsia del Lóbulo Temporal , Epilepsia , Preparaciones Farmacéuticas , Adulto , Amobarbital , Epilepsia/tratamiento farmacológico , Epilepsia del Lóbulo Temporal/cirugía , Lateralidad Funcional , Humanos , Inyecciones Intraarteriales , Memoria , Persona de Mediana Edad
3.
Sleep Med Rev ; 13(4): 287-93, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19246219

RESUMEN

The association between insomnia and sleep apnea has received little attention from health professionals in the past few decades. However, recent studies have shown a high prevalence of insomnia complaints in patients with objectively diagnosed obstructive sleep apnea (OSA) syndrome. In this paper we have reviewed data published on different aspects of this association: the clinical profile of sleep-disordered breathing (SDB)-plus, the nature of the association, the role in the onset of insomnia played by OSA itself and other comorbidity factors such as depression or the restless leg syndrome. Finally, we have reviewed data and hypotheses on the metabolic implications of OSA and insomnia, and we speculate on the role that hypothalamic-pituitary-adrenal axis hyperactivity may play in a hypothetical interrelation between OSA and insomnia. The apparent paradox implied by this clinical association reveals the need for interdisciplinary training for physicians who treat both types of disorders.


Asunto(s)
Apnea Obstructiva del Sueño/epidemiología , Trastornos del Inicio y del Mantenimiento del Sueño/epidemiología , Adulto , Anciano , Comorbilidad , Presión de las Vías Aéreas Positiva Contínua , Humanos , Grupo de Atención al Paciente , Síndrome de las Piernas Inquietas/diagnóstico , Síndrome de las Piernas Inquietas/epidemiología , Síndrome de las Piernas Inquietas/terapia , Factores de Riesgo , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/terapia , Trastornos del Inicio y del Mantenimiento del Sueño/diagnóstico , Trastornos del Inicio y del Mantenimiento del Sueño/terapia , Adulto Joven
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