LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 12

Search options

  1. Article: The autism-epilepsy connection.

    Levisohn, Paul M

    Epilepsia

    2007  Volume 48 Suppl 9, Page(s) 33–35

    Abstract: The high prevalence of epilepsy in children with autism supports a neurobiologic etiology for autism. It remains unclear whether seizures and epileptiform activity on the EEG are causative or comorbid. It is also uncertain if focal epileptiform EEG ... ...

    Abstract The high prevalence of epilepsy in children with autism supports a neurobiologic etiology for autism. It remains unclear whether seizures and epileptiform activity on the EEG are causative or comorbid. It is also uncertain if focal epileptiform EEG abnormalities may be associated with stable cognitive impairment. Even less clear is whether these EEG abnormalities can result in the combination of language and social dysfunction seen in autistic spectrum disorders.
    MeSH term(s) Autistic Disorder/diagnosis ; Autistic Disorder/epidemiology ; Autistic Disorder/psychology ; Cognition Disorders/diagnosis ; Cognition Disorders/epidemiology ; Comorbidity ; Electroencephalography/statistics & numerical data ; Epilepsy/diagnosis ; Epilepsy/epidemiology ; Humans ; Models, Psychological ; Prevalence ; Regression (Psychology)
    Language English
    Publishing date 2007
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/j.1528-1167.2007.01399.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 517: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 475: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Understanding stigma.

    Levisohn, Paul M.

    Epilepsy & behavior : E&B

    2003  Volume 3, Issue 6, Page(s) 489–490

    Language English
    Publishing date 2003-02-03
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/s1525-5050(02)00598-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5289: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article: Electroencephalography findings in autism: similarities and differences from Landau-Kleffner syndrome.

    Levisohn, Paul M

    Seminars in pediatric neurology

    2004  Volume 11, Issue 3, Page(s) 218–224

    MeSH term(s) Autistic Disorder/diagnosis ; Autistic Disorder/history ; Autistic Disorder/physiopathology ; Autistic Disorder/therapy ; Child ; Child Development ; Child, Preschool ; Diagnosis, Differential ; Electroencephalography ; Epilepsy/history ; Epilepsy/physiopathology ; History, 20th Century ; Humans ; Landau-Kleffner Syndrome/physiopathology ; Neuropsychological Tests
    Language English
    Publishing date 2004-11-01
    Publishing country United States
    Document type Historical Article ; Journal Article ; Review
    ZDB-ID 1290000-x
    ISSN 1558-0776 ; 1071-9091
    ISSN (online) 1558-0776
    ISSN 1071-9091
    DOI 10.1016/j.spen.2004.07.008
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 4772: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Transition from Pediatric to Adult Specialty Care for Adolescents and Young Adults with Refractory Epilepsy: A Quality Improvement Approach.

    Disabato, Jennifer A / Cook, Paul F / Hutton, Laura / Dinkel, Tristen / Levisohn, Paul M

    Journal of pediatric nursing

    2015  Volume 30, Issue 5, Page(s) e37–45

    Abstract: Adolescents and young adults with refractory epilepsy are particularly vulnerable to serious medical and psychosocial challenges during transition from pediatric to adult care. Quality improvement methods were used to address the transition process on an ...

    Abstract Adolescents and young adults with refractory epilepsy are particularly vulnerable to serious medical and psychosocial challenges during transition from pediatric to adult care. Quality improvement methods were used to address the transition process on an academic medical campus. Outcomes achieved were decreased time from referral to first appointment in the adult clinic, H=8.2, p=0.004, r=0.43; and increased social work referrals using decision support, z=10.0, p=0.0006, OR=6.13. As measured by the 13-item Patient Activation Measure, pre-post change in patient activation as an outcome of self-management education was not statistically significant.
    MeSH term(s) Academic Medical Centers/organization & administration ; Adolescent ; Adult ; Child ; Cohort Studies ; Drug Resistant Epilepsy/diagnosis ; Drug Resistant Epilepsy/therapy ; Female ; Humans ; Male ; Patient Care Team/organization & administration ; Patient Education as Topic/organization & administration ; Patient Safety ; Pediatrics/methods ; Quality Improvement ; Risk Assessment ; Self Care ; Transition to Adult Care/organization & administration ; Treatment Outcome ; United States ; Young Adult
    Language English
    Publishing date 2015-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 632731-x
    ISSN 1532-8449 ; 0882-5963
    ISSN (online) 1532-8449
    ISSN 0882-5963
    DOI 10.1016/j.pedn.2015.06.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.B 2871: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 375: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article: Topiramate or valproate in patients with juvenile myoclonic epilepsy: a randomized open-label comparison.

    Levisohn, Paul M / Holland, Katherine D

    Epilepsy & behavior : E&B

    2007  Volume 10, Issue 4, Page(s) 547–552

    Abstract: Few randomized, controlled trials evaluating antiepileptic drug (AED) efficacy and tolerability have focused solely on patients with juvenile myoclonic epilepsy (JME). We conducted a pilot, randomized controlled trial comparing topiramate (N=19) and ... ...

    Abstract Few randomized, controlled trials evaluating antiepileptic drug (AED) efficacy and tolerability have focused solely on patients with juvenile myoclonic epilepsy (JME). We conducted a pilot, randomized controlled trial comparing topiramate (N=19) and valproate (N=9) in adolescents/adults with JME to evaluate clinical response when these broad-spectrum agents are titrated to optimal effect. Rating scales were used to systematically assess tolerability. Among patients completing 26 weeks of treatment, 8 of 12 (67%) in the topiramate group and 4 of 7 (57%) in the valproate group were seizure-free during the 12-week maintenance period. Median daily dose was 250mg topiramate or 750mg valproate. Two (11%) topiramate-treated patients and one (11%) valproate-treated patient discontinued due to adverse events. Systemic toxicity scores, but not neurotoxicity scores, differed substantially between the two groups; greater systemic toxicity was associated with valproate. Our preliminary findings that topiramate may be an effective, well-tolerated alternative to valproate warrant validation in a double-blind trial.
    MeSH term(s) Adolescent ; Adult ; Aged ; Anticonvulsants/adverse effects ; Anticonvulsants/therapeutic use ; Child ; Double-Blind Method ; Female ; Fructose/adverse effects ; Fructose/analogs & derivatives ; Fructose/therapeutic use ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Myoclonic Epilepsy, Juvenile/drug therapy ; Neurotoxicity Syndromes/epidemiology ; Pilot Projects ; Seizures/epidemiology ; Seizures/prevention & control ; Tomography, X-Ray Computed ; Valproic Acid/adverse effects ; Valproic Acid/therapeutic use
    Chemical Substances Anticonvulsants ; topiramate (0H73WJJ391) ; Fructose (30237-26-4) ; Valproic Acid (614OI1Z5WI)
    Language English
    Publishing date 2007-06
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Randomized Controlled Trial
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2007.03.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5289: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: A description of current practice in epilepsy monitoring units.

    Buelow, Janice M / Privitera, Michael / Levisohn, Paul / Barkley, Gregory L

    Epilepsy & behavior : E&B

    2009  Volume 15, Issue 3, Page(s) 308–313

    Abstract: Objective: In the epilepsy monitoring unit (EMU), a patient whose seizures may be under control is placed in a medication-withdrawal situation to induce seizures for direct observation and recording. This withdrawal introduces patient risk. In addition, ...

    Abstract Objective: In the epilepsy monitoring unit (EMU), a patient whose seizures may be under control is placed in a medication-withdrawal situation to induce seizures for direct observation and recording. This withdrawal introduces patient risk. In addition, because the EMU is a complex medical and restrictive physical environment, other risks are brought into play. Patient management to reduce danger while optimizing results should arise from current evidence, but gaps exist in the literature regarding best practice in the EMU. In this article the authors report results of two national surveys of health care practitioners in specialized epilepsy care regarding current EMU practice.
    Methods: Two surveys were developed: one comprised of 17 questions for physicians who practice in an EMU, and one comprising 26 questions for nurses who practice in an EMU. Both surveys addressed such issues as protocols for medication withdrawal and rescue procedures, patient observers, and safety issues. Surveys were distributed via Zoomerang to 1500 physician and 105 nurse members of the American Epilepsy Society. Results were tabulated and presented as percentages for each question of each survey.
    Results: Responses came from 257 physicians (approximately 17%) and 39 nurses (37%). More than half of the responders practiced in large academic centers. No clear consensus of practice emerged on such questions as drug withdrawal, seizure observation, and rescue protocols. Safety precautions varied.
    Conclusion: An initial attempt to understand current practice in EMUs, our survey study showed a wide variation in practice patterns, some of which raise safety concerns. The data gathered can aid design of future studies that more directly address specific questions of safety in the EMU.
    MeSH term(s) Electroencephalography/methods ; Epilepsy/diagnosis ; Evidence-Based Medicine ; Health Care Surveys ; Health Personnel/psychology ; Humans ; Monitoring, Physiologic ; Physician-Patient Relations ; Physicians ; Practice Guidelines as Topic ; Practice Patterns, Physicians'
    Language English
    Publishing date 2009-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2009.04.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5289: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  7. Article ; Online: Project Access: Strategies to improve care for children and youth with epilepsy: illustrations of recommendations in the IOM report on the epilepsies.

    Wagner, Janelle L / Levisohn, Paul M / Onufer, Charles N / Uchegbu, Gloria C / Fletcher, Linda / Zupanc, Mary / Browne, Mimi

    Epilepsy & behavior : E&B

    2013  Volume 29, Issue 1, Page(s) 121–127

    Abstract: Project Access (PA), funded by the Maternal and Child Health Bureau (MCHB) of the Health Resources and Services Administration (HRSA), provided grants to state and local agencies to improve awareness, provide education, design, test, pilot and evaluate ... ...

    Abstract Project Access (PA), funded by the Maternal and Child Health Bureau (MCHB) of the Health Resources and Services Administration (HRSA), provided grants to state and local agencies to improve awareness, provide education, design, test, pilot and evaluate system changes, and improve quality of services and access to early diagnosis and comprehensive, coordinated health care and related services for children and youth with epilepsy residing in rural and medically underserved areas. In 2011, the Institute of Medicine of the National Academies (IOM) published a series of 13 recommendations addressing unmet psychosocial, medical, and public health needs of individuals with epilepsy, including children and youth. This paper examines the synergy between these two projects showing how the strategies utilized in the PA demonstration projects can address the IOM recommendations and how these recommendations can inform future initiatives for improving care for children and youth with epilepsy.
    MeSH term(s) Adolescent ; Child ; Epilepsy/epidemiology ; Epilepsy/therapy ; Female ; Health Promotion/methods ; Health Services Needs and Demand ; Humans ; Male ; National Academies of Science, Engineering, and Medicine (U.S.) Health and Medicine Division ; Quality Improvement ; United States/epidemiology ; Young Adult
    Language English
    Publishing date 2013-10
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2013.06.036
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5289: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Article ; Online: Neurocognitive effects of adjunctive levetiracetam in children with partial-onset seizures: a randomized, double-blind, placebo-controlled, noninferiority trial.

    Levisohn, Paul M / Mintz, Mark / Hunter, Scott J / Yang, Haichen / Jones, John

    Epilepsia

    2009  Volume 50, Issue 11, Page(s) 2377–2389

    Abstract: Purpose: Evaluate potential neurocognitive effects of adjunctive levetiracetam in children with inadequately controlled partial-onset seizures (POS).: Methods: Randomized, double-blind, placebo-controlled, noninferiority safety study. Children (4-16 ... ...

    Abstract Purpose: Evaluate potential neurocognitive effects of adjunctive levetiracetam in children with inadequately controlled partial-onset seizures (POS).
    Methods: Randomized, double-blind, placebo-controlled, noninferiority safety study. Children (4-16 years; IQ > or =65) with > or =1 POS during 4 weeks before screening despite taking 1-2 antiepileptic drugs (AEDs) were randomized (2:1) to levetiracetam (20-60 mg/kg/day) or placebo for 12 weeks.
    Results: Ninety-nine patients were randomized with 98 (levetiracetam 64, placebo 34) in intent-to-treat (ITT) and 73 (levetiracetam 46, placebo 27) in per protocol (PP) populations. Primary cognitive assessment was the Leiter International Performance Scale-Revised Attention and Memory Battery with the memory screen composite score change from baseline as the primary endpoint. PP Least Square Mean [LSM (standard error)] were 5.36 (1.78) for levetiracetam; 5.17 (2.33) for placebo; difference [two-sided 90% confidence interval (CI)] 0.19 (-4.69, 5.08). Levetiracetam was noninferior to placebo because the 90% CI lower bound was greater than the defined noninferiority margin (-9.0). There were no statistically significant differences between groups in Wide Range Assessment of Memory and Learning-2 indexes and Leiter-R Examiner's Rating Scale scores. Median reductions from baseline in weekly POS frequency were 91.5% versus 26.5% for levetiracetam versus placebo; > or =50% responder rates: 62.5% versus 41.2%; seizure freedom rates: 46.9% versus 8.8% (ITT). Adverse events were reported by 89.1% levetiracetam-treated and 85.3% placebo-treated patients; those reported by > or =10% levetiracetam patients and more often with levetiracetam were headache, nasopharyngitis, fatigue, vomiting, somnolence, and aggression.
    Discussion: Neurocognitive effects were no different in pediatric patients with POS treated with adjunctive levetiracetam or placebo. Levetiracetam was effective and well tolerated.
    MeSH term(s) Adolescent ; Adult ; Age Distribution ; Anticonvulsants/adverse effects ; Anticonvulsants/therapeutic use ; Child ; Cognition/drug effects ; Cognition Disorders/diagnosis ; Cognition Disorders/epidemiology ; Comorbidity ; Double-Blind Method ; Drug Administration Schedule ; Drug Therapy, Combination ; Epilepsies, Partial/drug therapy ; Epilepsies, Partial/epidemiology ; Female ; Humans ; Male ; Middle Aged ; Neuropsychological Tests/statistics & numerical data ; Piracetam/adverse effects ; Piracetam/analogs & derivatives ; Piracetam/therapeutic use ; Placebos ; Treatment Outcome
    Chemical Substances Anticonvulsants ; Placebos ; etiracetam (230447L0GL) ; Piracetam (ZH516LNZ10)
    Language English
    Publishing date 2009-11
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Multicenter Study ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/j.1528-1167.2009.02197.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 517: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 475: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: A consensus-based approach to patient safety in epilepsy monitoring units: recommendations for preferred practices.

    Shafer, Patricia O / Buelow, Janice M / Noe, Katherine / Shinnar, Ruth / Dewar, Sandra / Levisohn, Paul M / Dean, Patricia / Ficker, David / Pugh, Mary Jo / Barkley, Gregory L

    Epilepsy & behavior : E&B

    2012  Volume 25, Issue 3, Page(s) 449–456

    Abstract: Patients in an epilepsy monitoring unit (EMU) with video-EEG telemetry have a risk for seizure emergencies, injuries and adverse events, which emphasizes the need for strategies to prevent avoidable harm. An expert consensus process was used to establish ...

    Abstract Patients in an epilepsy monitoring unit (EMU) with video-EEG telemetry have a risk for seizure emergencies, injuries and adverse events, which emphasizes the need for strategies to prevent avoidable harm. An expert consensus process was used to establish recommendations for patient safety in EMUs. Workgroups analyzed literature and expert opinion regarding seizure observation, seizure provocation, acute seizures, and activity/environment. A Delphi methodology was used to establish consensus for items submitted by these workgroups. Fifty-three items reached consensus and were organized into 30 recommendations. High levels of agreement were noted for items pertaining to orientation, training, communication, seizure precautions, individualized plans, and patient/family education. It was agreed that seizure observation should include direct observation or use of closed-circuit camera. The use of continuous observation was strongest in patients with invasive electrodes, at high risk for injury, or undergoing AED withdrawal. This process provides a first step in establishing EMU safety practices.
    MeSH term(s) Consensus ; Electroencephalography/methods ; Epilepsy/diagnosis ; Female ; Humans ; Male ; Monitoring, Physiologic/methods ; Monitoring, Physiologic/standards ; Patient Safety/statistics & numerical data ; Practice Guidelines as Topic ; Retrospective Studies
    Language English
    Publishing date 2012-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2012.07.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5289: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article: KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

    Millichap, John J / Park, Kristen L / Tsuchida, Tammy / Ben-Zeev, Bruria / Carmant, Lionel / Flamini, Robert / Joshi, Nishtha / Levisohn, Paul M / Marsh, Eric / Nangia, Srishti / Narayanan, Vinodh / Ortiz-Gonzalez, Xilma R / Patterson, Marc C / Pearl, Phillip L / Porter, Brenda / Ramsey, Keri / McGinnis, Emily L / Taglialatela, Maurizio / Tracy, Molly /
    Tran, Baouyen / Venkatesan, Charu / Weckhuysen, Sarah / Cooper, Edward C

    Neurology. Genetics

    2016  Volume 2, Issue 5, Page(s) e96

    Abstract: Objective: To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments.: Methods: We retrospectively studied 23 patients with ... ...

    Abstract Objective: To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments.
    Methods: We retrospectively studied 23 patients with KCNQ2 encephalopathy, including 11 treated with ezogabine (EZO). We analyzed the genotype-phenotype relationships in these and 70 previously described patients.
    Results: The mean seizure onset age was 1.8 ± 1.6 (SD) days. Of the 20 EEGs obtained within a week of birth, 11 showed burst suppression. When new seizure types appeared in infancy (15 patients), the most common were epileptic spasms (n = 8). At last follow-up, seizures persisted in 9 patients. Development was delayed in all, severely in 14. The KCNQ2 variants identified introduced amino acid missense changes or, in one instance, a single residue deletion. They were clustered in 4 protein subdomains predicted to poison tetrameric channel functions. EZO use (assessed by the treating physicians and parents) was associated with improvement in seizures and/or development in 3 of the 4 treated before 6 months of age, and 2 of the 7 treated later; no serious side effects were observed.
    Conclusions: KCNQ2 variants cause neonatal-onset epileptic encephalopathy of widely varying severity. Pathogenic variants in epileptic encephalopathy are clustered in "hot spots" known to be critical for channel activity. For variants causing KCNQ2 channel loss of function, EZO appeared well tolerated and potentially beneficial against refractory seizures when started early. Larger, prospective studies are needed to enable better definition of prognostic categories and more robust testing of novel interventions.
    Classification of evidence: This study provides Class IV evidence that EZO is effective for refractory seizures in patients with epilepsy due to KCNQ2 encephalopathy.
    Language English
    Publishing date 2016-08-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000000096
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top