Publications by authors named "Jocelyn Bautista"

Psychogenic nonepileptic seizure (PNES) is often misdiagnosed as epilepsy, leading to unnecessary treatments and procedures, as well as failure to engage patients in needed mental health care. To establish an accurate diagnosis, video electroencephalography (EEG) in the context of and simultaneous with a comprehensive neurologic and psychosocial evaluation is recommended for any patient with seizures that are not responding to treatment. Delivering the diagnosis with empathy and respect is a crucial component of care that helps patients establish trust with caregivers and follow treatment recommendations.

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Access to mental health care is a significant challenge in patients with psychogenic nonepileptic seizures (PNES). Telepsychology can curb the access barriers and improve adherence but the role of telepsychology in improving adherence has not been well investigated. The current study examines the utility of telepsychology during the COVID-19 pandemic and treatment adherence in PNES patients.

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Psychogenic nonepileptic seizures (PNES) are diagnosed in approximately 30% of patients referred to tertiary care epilepsy centers. Little is known about the molecular pathology of PNES, much less about possible underlying genetic factors. We generated whole-exome sequencing and whole-genome genotyping data to identify rare, pathogenic (P) or likely pathogenic (LP) variants in 102 individuals with PNES and 448 individuals with focal (FE) or generalized (GE) epilepsy.

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To update the 2004 American Academy of Neurology (AAN) guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). 2004 criteria were used to systematically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. Forty-two articles were included.

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To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy (GE) with second- and third-generation antiepileptic drugs (AEDs). The 2004 AAN criteria was used to systematically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. Several second-generation AEDs are effective for new-onset focal epilepsy.

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Objective: To quantify the neurologic patient experience with patient-reported outcome measures (PROMs) and identify factors associated with a positive PROMs experience.

Methods: This retrospective study included all patients seen in 6 neurologic clinics who completed patient experience questions at least once between October 2015 and September 2016. Questions assessed overall satisfaction with PROMs, as well as 4 facets of the PROM experience: usefulness of questions, ease of understanding, effect on communication with provider, and effect on control of their own care.

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Objective: To update the 2004 American Academy of Neurology guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs).

Methods: 2004 criteria were used to systemically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength.

Results: Forty-two articles were included.

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Objective: To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy with second- and third-generation antiepileptic drugs (AEDs).

Methods: The 2004 AAN criteria were used to systematically review literature (January 2003-November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength.

Results: Several second-generation AEDs are effective for new-onset focal epilepsy.

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Objective: Subjective cognitive complaints are a frequent concern of patients with epilepsy. The Aldenkamp-Baker Neuropsychological Assessment Schedule (ABNAS) is a patient-reported scale validated to measure adverse cognitive effects of antiepileptic drugs (AEDs). The goals of this study were to identify predictors of patient-reported cognitive dysfunction and to assess the relationship between subjective and objective cognitive impairment.

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Management of psychogenic nonepileptic seizures (PNES) is complex, requiring multidisciplinary care. A standardized assessment and formulation approach to PNES is lacking, yet use of a comprehensive model may alleviate problems such as mental health aftercare noncompliance. Although a biopsychosocial (BPS) approach to PNES balancing predisposing, precipitating, and perpetuating (PPP) variables has been described and has been recently tested in pilot form, it is unclear how this assessment style is perceived among community mental health practitioners such as psychotherapists (including psychologists, counselors, and social workers).

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Management of psychogenic nonepileptic seizures (PNES) is complex, requiring multidisciplinary care. A standardized assessment approach to PNES is lacking, yet use of a comprehensive model may alleviate problems such as mental health aftercare noncompliance. Although a biopsychosocial (BPS) approach to PNES balancing predisposing, precipitating, and perpetuating (PPP) variables has been described, it is unclear how this formulation style is perceived amongst clinicians.

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Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations.

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The epilepsy phenome/genome project.

Clin Trials

August 2013

Background: Epilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies.

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[March 2008-Cleveland Case Report]. There is a well-described association between the occurrence of developmental tumors and the presence of cortical dysplasia in the neighboring brain tissue. The main surgical approaches in the treatment of medically refractory epilepsy related to such developmental tumors include a lesionectomy versus a tailored cortical resection, often guided by an invasive evaluation.

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Complex genetic disease is inherently difficult to study due to an imperfect relationship between genotype and phenotype. One important reason for this imperfect relationship is genetic heterogeneity, the occurrence of different genetic factors underlying the same clinical syndrome. One method of addressing genetic heterogeneity is covariate-based linkage analysis, which allows the use of additional phenotypic features to define genetically distinct subsets of patients.

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A missense mutation (D434G) has recently been identified in the alpha subunit of the human large-conductance calcium-activated potassium (BK) channel. Interestingly, although the mutation causes an increase in open probability, individuals that carry the mutation have epilepsy and/or paroxysmal dyskinesia, disorders of increased brain excitability. To define the mechanisms of the mutation, we have used recordings from single channels and measurement of macroscopic conductances to examine the gating of the alpha subunit, modulation by the regulatory beta4 subunit, and the effect of Mg2+ on channel properties.

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P300 amplitude is an electrophysiological quantitative trait that is correlated with both alcoholism and smoking status. Using the Collaborative Study on the Genetics of Alcoholism data, we performed model-free linkage analysis to investigate the relationship between alcoholism, P300 amplitude, and habitual smoking. We also analyzed the effect of parent-of-origin on alcoholism, and utilized both microsatellites (MS) markers and single-nucleotide polymorphisms (SNPs).

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The large conductance calcium-sensitive potassium (BK) channel is widely expressed in many organs and tissues, but its in vivo physiological functions have not been fully defined. Here we report a genetic locus associated with a human syndrome of coexistent generalized epilepsy and paroxysmal dyskinesia on chromosome 10q22 and show that a mutation of the alpha subunit of the BK channel causes this syndrome. The mutant BK channel had a markedly greater macroscopic current.

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Purpose: To assess the evidence demonstrating efficacy, tolerability, and safety of seven new antiepileptic drugs (AEDs) [gabapentin (GBP), lamotrigine (LTG), topiramate (TPM), tiagabine (TGB), oxcarbazepine (OXC), levetiracetam (LEV), and zonisamide (ZNS)] in the treatment of children and adults with refractory partial and generalized epilepsies.

Methods: A 23-member committee, including general neurologists, pediatric neurologists, epileptologists, and doctors in pharmacy, evaluated the available evidence based on a structured literature review including MEDLINE, Current Contents, and Cochrane Library for relevant articles from 1987 to March 2003.

Results: All of the new AEDs were found to be appropriate for adjunctive treatment of refractory partial seizures in adults.

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Purpose: To assess the evidence demonstrating efficacy, tolerability, and safety of seven new antiepileptic drugs [AEDs; gabapentin (GBP), lamotrigine (LTG), topiramate (TPM), tiagabine (TGB), oxcarbazepine (OXC), levetiracetam (LEV), and zonisamide (ZNS), reviewed in the order in which these agents received approval by the U.S. Food and Drug Administration] in the treatment of children and adults with newly diagnosed partial and generalized epilepsies.

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Purpose: The clinical features of focal cortical dysplasia (FCD) in adults are poorly understood. The purpose of this report is to describe the clinical, electrographic, and neuroimaging characteristics of adults with FCD undergoing surgical resection for intractable epilepsy.

Methods: Case series of 55 patients, aged 17-57 years, with a histopathological diagnosis of FCD.

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