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(jacksonian seizure)
127,437 results
  • SYNGAP1-DEE: A visual sensitive epilepsy. [Journal Article]
    Clin Neurophysiol. 2021 Feb 03; 132(4):841-850.Lo Barco T, Kaminska A, … Nabbout R
  • CONCLUSIONS: Fixation-off and eye closure were the main triggers for seizures in this SYNGAP1 cohort.Combining these clinical and electroencephalographic features could help guide genetic diagnosis.
  • Recognition of interictal and ictal discharges on EEG. Focal vs generalized epilepsy. [Review]
    Epilepsy Behav. 2021 Feb 24; 117:107830.Andrade-Machado R, Benjumea Cuartas V, Muhammad IK
  • CONCLUSIONS: A close attention to localization and morphology of epileptiform discharges, the correct interpretation of secondary bilateral synchrony, and provocative maneuvers help to correctly identify the EEG findings leading to diagnose focal epilepsies. The presence of generalized epileptiform activity does not rule out the existence of a focal epilepsy.
  • Understanding Sunflower syndrome: Results of an online questionnaire. [Journal Article]
    Epilepsy Behav. 2021 Feb 24; 117:107856.Barnett JR, Fleming BM, … Thiele EA
  • CONCLUSIONS: Sunflower syndrome is a highly stereotyped, refractory epilepsy which significantly impacts the lives of affected individuals. It remains underrecognized and poorly understood. These results characterize Sunflower syndrome in a large population of affected individuals and provides a basis for future research to better understand the epilepsy and improve clinical care.
  • Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report. [Journal Article]
    Eur J Med Genet. 2021 Feb 24 [Online ahead of print]Henige H, Kaur S, Pappas K
  • The homozygous missense variant in the GOSR2 gene (c.430G>T) is known to be associated with progressive myoclonic epilepsy (PME). The clinical presentation of GOSR2-related PME involves the development of ataxia, seizures, scoliosis, areflexia, and mildly elevated creatine kinase. Recently, it has been suggested that some compound heterozygous variants in GOSR2 are associated with a predominant m…
  • SGK1.1 limits brain damage after status epilepticus through M current-dependent and independent mechanisms. [Journal Article]
    Neurobiol Dis. 2021 Feb 24 [Online ahead of print]Martin-Batista E, Maglio LE, … Giraldez T
  • Epilepsy is a neurological condition associated to significant brain damage produced by status epilepticus (SE) including neurodegeneration, gliosis and ectopic neurogenesis. Reduction of these processes constitutes a useful strategy to improve recovery and ameliorate negative outcomes after an initial insult. SGK1.1, the neuronal isoform of the serum and glucocorticoids-regulated kinase 1 (SGK1)…
  • Novel unconventional variants expand the allelic spectrum of OPHN1 gene. [Case Reports]
    Am J Med Genet A. 2021 Feb 27 [Online ahead of print]Nuovo S, Brankovic V, … Valente EM
  • Mutations in the OPHN1 gene cause a rare X-linked recessive neurodevelopmental disorder characterized by intellectual disability, variably associated with cerebellar hypoplasia and distinctive facial appearance. In most of cases so far reported, the identified genomic variants involve the region encoding the central RhoGAP domain of the oligophrenin-1 protein, and are predicted to result in a com…
  • MECP2 and the Biology of MECP2 Duplication Syndrome. [Review]
    J Neurochem. 2021 Feb 26 [Online ahead of print]D'Mello SR
  • MECP2 duplication syndrome (MDS), a rare X-linked genomic disorder affecting predominantly males, is caused by duplication of the chromosomal region containing the methyl CpG binding protein-2 (MECP2) gene, which encodes methyl-CpG-binding protein 2 (MECP2), a multi-functional protein required for proper brain development and maintenance of brain function during adulthood. Disease symptoms includ…
  • Recurrent seizures of autoimmune origin: emerging phenotypes. [Journal Article]
    J Neurol. 2021 Feb 27 [Online ahead of print]Goudot M, Frismand S, … Tyvaert L
  • CONCLUSIONS: Autoimmune cause (AEp) should be assessed in patient suffering from recurrent seizures of unknown cause. Acute encephalitis is clearly the main AEp phenotype. AEp was also defined in more than one-third of chronic epilepsy patients (NEP) of unknown cause. Then, AEp may be combined with other autoimmune comorbidities, a shorter evolution of recurrent seizures, and cognitive impairment.
  • Perinatal outcome after vacuum assisted delivery with digital feedback on traction force; a randomised controlled study. [Journal Article]
    BMC Pregnancy Childbirth. 2021 Feb 26; 21(1):165.Romero S, Pettersson K, … Ajne G
  • CONCLUSIONS: The incidence of primary outcome was lower than estimated and the study was underpowered. However, the difference between the two delivery wards might reflect varying degree of experience of the technical equipment. An objective documentation of the extraction procedure is an attractive alternative in respect to safety and clinical training. To demonstrate improved safety, a multicentre study is required to reach an adequate cohort. This was beyond the scope of the study.
  • Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry. [Journal Article]
    J Neurol Sci. 2020 Dec 19; 423:117283.García-Azorín D, Abildúa MJA, … Spanish neuroCOVID registry group
  • CONCLUSIONS: The neurological manifestations of COVID-19 are diverse. Anosmia, myalgia, and headache occur earlier in the course of the disease. Altered mental status, neuromuscular symptoms, and stroke are associated with greater severity. COVID-19 must be incorporated into most clinical and radiological differential diagnoses. COVID-19 may cause persistent and disabling neurological symptoms.
  • Rapid and simple determination of gabapentin in urine by ion mobility spectrometry. [Journal Article]
    J Pharm Biomed Anal. 2021 Feb 17; 197:113980.Valadbeigi Y, Ilbeigi V, … Soleimani M
  • Gabapentin is a pharmacological agent used in the treatment of epileptic seizures. In this work, a fast method is proposed for determination of gabapentin in urine by ion mobility spectrometry (IMS) without any extraction and derivatization. ZnCl2 was used as an effective protein precipitating reagent to remove the urine proteins. It was found that urea content of urine interferes with detection …
  • The COVID-19 outbreak and PNES: The impact of a ubiquitously felt stressor. [Journal Article]
    Epilepsy Behav. 2021 Feb 12; 117:107852.Valente KD, Alessi R, … Palmini A
  • CONCLUSIONS: Patients with functional neurological disorders are vulnerable during ubiquitously felt stressors. However, the atmosphere of uncertainty did not affect these patients equally. Patients with PNES showing symptoms of anxiety and depression are at higher risk of seizure worsening. Early identification of this subset of patients may prevent this detrimental outcome.
  • Post-traumatic seizures following pediatric traumatic brain injury. [Journal Article]
    Clin Neurol Neurosurg. 2021 Feb 10; 203:106556.Elsamadicy AA, Koo AB, … DiLuna M
  • CONCLUSIONS: Out study demonstrates that various demographic, hospital, and clinical risk factors are associated with the development of seizures following traumatic brain injury. Enhancing awareness of these drivers may help provide greater awareness of patients likely to develop post-traumatic seizures such that this complication can be decreased in incidence so as to improve quality of care and decrease healthcare costs.
  • Feasibility of implantable iron oxide nanoparticles in detecting brain activity-proof of concept in a rat model. [Journal Article]
    Epilepsy Res. 2021 Feb 17; 172:106585.Champagne PO, Sanon NT, … Sawan M
  • CONCLUSIONS: SPIONs implanted over the cortex of active brain showed an increased aggregation status, confirming their potential as a new marker for brain activity. One of the main advantages of SPIONs is that their aggregation status can be measured at a distance with MRI, taking advantage of its high spatial resolution and imaging capacities. The current model was suboptimal to confirm if epileptic activity can be differentiated from normal brain activity using SPIONs.
  • Multifocal neutrophilic meningoencephalitis: a novel disorder responsive to anakinra. [Journal Article]
    J Neurol. 2021 Feb 26 [Online ahead of print]Berger JR, Markowitz C, … Mourelatos Z
  • We report a 57-year-old man with recurrent meningoencephalitis resulting in bouts of altered consciousness, encephalopathy, tremors, focal seizures, and paraparesis. The neurological manifestations were accompanied by fever and leukocytosis in the absence of other systemic manifestations. MRI abnormalities of the brain, brainstem, spinal cord and meninges and CSF pleocytosis and elevated protein …
  • 2,4-Dichlorophenoxyacetic Acid Poisoning Mimicking as Organophosphorus Poisoning. [Case Reports]
    Cureus. 2021 Jan 22; 13(1):e12852.Rajendran A, Mahalingam S, … Nathan B
  • Different compounds such as organochlorines, pyrethroids, fungicides, 2,4-dichlorophenoxy (2,4-D) herbicides, mushrooms, opioids, cartap compounds, and amitraz compounds can mimic organophosphorus (OP) poisoning. Muscle fasciculation, pulmonary edema, convulsions, bradycardia, hypotension, and smell caused by pyrethroids, as well as neurological signs, seizures, pulmonary edema, and smell caused …
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