Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review.


:Mutations in the Potassium channel subfamily T member 1 (KCNT1) gene have been reported in a range of epileptic encephalopathies. Here we report the case of a 12-year-old male suffering from multiple types of epileptic seizures and cognitive decline from the age of 10. The patient had four types of epileptic seizures, including tonic seizures, atypical absence seizures, myoclonic seizures, and generalized tonic-clonic seizures. The electroencephalogram showed generalized slow spike-and-slow-waves, mutiple-spike-and-slow-waves, as well as short-term fast rhythms bursts. Thus, he was diagnosed with Lennox-Gastaut syndrome. The patient had failed to control seizures after using five first-line antiepileptic drugs. Whole exome sequencing revealed a missense KCNT1 mutation (c.625 C>T). Previous studies revealed that quinidine could block the KCNT1 channel. Therefore, we assumed that quinidine might be effective for him. Add-on treatment with quinidine was started when the patient was 12 years old. After an 8-month treatment, the frequency of seizures and epileptiform discharges were significantly reduced. In conclusion, quinidine therapy may offer a new choice for the treatment of Lennox-Gastaut syndrome with KCNT1 mutations.


Front Neurol


Frontiers in neurology


Jia Y,Lin Y,Li J,Li M,Zhang Y,Hou Y,Liu A,Zhang L,Li L,Xiang P,Ye J,Huang Z,Wang Y




Has Abstract


2019-02-05 00:00:00








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    abstract::With respect to photoreceptor function, it is well known that electroretinogram (ERG) amplitudes decrease with age, but to our knowledge, studies describing age-related changes in the pupil light response (PLR) of mice are lacking. This study recorded the PLR and ERG in C57BL/6 and Sv129S6 wild-type mice at three diff...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Kircher N,Crippa SV,Martin C,Kawasaki A,Kostic C

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  • An Enigmatic Case of Acute Mercury Poisoning: Clinical, Immunological Findings and Platelet Function.

    abstract::Severe mercury intoxication is very rare in developed countries, but still occurs as the result of volatile substance abuse, suicide attempts, occupational hazards, or endemic food ingestion as reported in the cases of public health disasters in Iraq and in Minamata Bay, Japan. Here, we describe the dramatic physical ...

    journal_title:Frontiers in neurology



    authors: Kleffner I,Eichler S,Ruck T,Schüngel L,Pfeuffer S,Polzer P,Dittrich R,Dziewas R,Gross CC,Göbel K,Wiendl H,Kehrel BE,Meuth SG

    更新日期:2017-09-28 00:00:00

  • Usability of an Educational Intervention to Overcome Therapeutic Inertia in Multiple Sclerosis Care.

    abstract::Background: Educational interventions are needed to overcome knowledge-to-action gaps in clinical care. We previously tested the feasibility and potential efficacy of an educational intervention that facilitates treatment decisions in multiple sclerosis care. A demonstration of the usability of such an intervention is...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Saposnik G,Tobler PN,Caceres F,Terzaghi MA,Ruff C,Maurino J,Fruns Quintana M,Oh J,Montalban X,Mamdani M

    更新日期:2018-07-10 00:00:00

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Liu X,Cao Z,Gu H,Yang K,Ji R,Li Z,Zhao X,Wang Y

    更新日期:2020-12-03 00:00:00

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Brinckmann MP,van Noort BM,Leithner C,Ploner CJ

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    abstract:BACKGROUND AND PURPOSE:Cardiac myxoma is a rare etiology of stroke. Both cerebral microbleeds and cardiac myxoma may increase the risk of intracerebral hemorrhage after intravenous (IV) thrombolysis. However, data are still limited. We report a case of multiple cerebral microbleeds treated with IV thrombolysis with lat...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Chutinet A,Roongpiboonsopit D,Suwanwela NC

    更新日期:2014-12-01 00:00:00

  • Motor Nerve Conduction Block Predicting Outcome of Guillain-Barre Syndrome.

    abstract::Introduction: Motor nerve conduction blocks (CBs) could be detected in both acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). We aimed to identify the correlation between CBs and functional outcome in the two subtypes of GBS. Methods: Motor nerve conduction studie...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Niu J,Liu M,Sun Q,Li Y,Wu S,Ding Q,Guan Y,Cui L

    更新日期:2018-06-01 00:00:00

  • Takotsubo Cardiomyopathy-Acute Cardiac Dysfunction Associated With Neurological and Psychiatric Disorders.

    abstract::Takotsubo cardiomyopathy (TTC) is an acute and reversible cardiac wall motion abnormality of the left myocardium. Although many studies focused on etiology, diagnostic and treatment of TTC, precise clinical guidelines on TTC are not available. Research revealed emotional and physical triggering factors of TTC and emph...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审


    authors: Buchmann SJ,Lehmann D,Stevens CE

    更新日期:2019-08-22 00:00:00

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Yakushin SB,Raphan T,Cohen B

    更新日期:2017-08-16 00:00:00

  • Death Anxiety and Depression in Amyotrophic Lateral Sclerosis Patients and Their Primary Caregivers.

    abstract::Background: Given the lethal severity of amyotrophic lateral sclerosis (ALS), the aim of this study was to illuminate the coherence of depression and death anxiety in both ALS patients and caregivers and in how far patients and caregivers are influenced by the mindset of their respective counterpart. Methods: 30 coupl...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Grabler MR,Weyen U,Juckel G,Tegenthoff M,Mavrogiorgou-Juckel P

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审


    authors: Kaski D,Bronstein AM

    更新日期:2017-04-24 00:00:00

  • Presynaptic Mechanisms of l-DOPA-Induced Dyskinesia: The Findings, the Debate, and the Therapeutic Implications.

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审


    authors: Cenci MA

    更新日期:2014-12-15 00:00:00

  • High Compliance with Scheduled Nimodipine Is Associated with Better Outcome in Aneurysmal Subarachnoid Hemorrhage Patients Cotreated with Heparin Infusion.

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Wessell A,Kole MJ,Badjatia N,Parikh G,Albrecht JS,Schreibman DL,Simard JM

    更新日期:2017-06-09 00:00:00

  • Microscopic Polyangiitis With Selective Involvement of Central and Peripheral Nervous System: A Case Report.

    abstract::Background: Microscopic polyangiitis (MPA) is a necrotizing vasculitis that affects predominantly small-sized vessels in many organ systems. The disease generally causes glomerulonephritis, pulmonary damage, arthritis, and neuropathy. An exclusive involvement of both central nervous system (CNS) and peripheral nervous...

    journal_title:Frontiers in neurology



    authors: Arienti F,Franco G,Monfrini E,Santaniello A,Bresolin N,Saetti MC,Di Fonzo A

    更新日期:2020-04-28 00:00:00

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Skowronek C,Zange L,Lipp A

    更新日期:2019-02-26 00:00:00

  • Reduced Glutamate in the Medial Prefrontal Cortex Is Associated With Emotional and Cognitive Dysregulation in People With Chronic Pain.

    abstract::A decrease in glutamate in the medial prefrontal cortex (mPFC) has been extensively found in animal models of chronic pain. Given that the mPFC is implicated in emotional appraisal, cognition and extinction of fear, could a potential decrease in glutamate be associated with increased pessimistic thinking, fear and wor...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Naylor B,Hesam-Shariati N,McAuley JH,Boag S,Newton-John T,Rae CD,Gustin SM

    更新日期:2019-12-03 00:00:00

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审


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    pub_type: 杂志文章


    authors: Dickerson MR,Bailey ZS,Murphy SF,Urban MJ,VandeVord PJ

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Neutel D,Peralta R,Pires J,Bentes C,Ferreira JJ

    更新日期:2015-09-24 00:00:00

  • Ventricular Tract Hemorrhage Following Intracranial Nail Removal: Utility of Real-time Endovascular Assistance.

    abstract::Penetrating brain trauma commonly results in occult neurovascular injury. Detailed cerebrovascular imaging can evaluate the relationship of intracranial foreign bodies to major vascular structures, assess for traumatic pseudoaneurysms, and ensure hemostasis during surgical removal. We report a case of a self-inflicted...

    journal_title:Frontiers in neurology



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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Hu C,Li X,Zhao L,Shi Y,Zhou S,Wang Y

    更新日期:2020-09-08 00:00:00

  • Altered Coupling between Motion-Related Activation and Resting-State Brain Activity in the Ipsilesional Sensorimotor Cortex after Cerebral Stroke.

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Hu J,Du J,Xu Q,Yang F,Zeng F,Dai XJ,Liu X,Lu G,Zhang Z

    更新日期:2017-07-19 00:00:00

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Okazaki S,Hornberger E,Griebe M,Gass A,Hennerici MG,Szabo K

    更新日期:2015-05-26 00:00:00

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    journal_title:Frontiers in neurology



    authors: Aguilera-Albesa S,de la Hoz AB,Ibarluzea N,Ordóñez-Castillo AR,Busto-Crespo O,Villate O,Ibiricu-Yanguas MA,Yoldi-Petri ME,García de Gurtubay I,Perez de Nanclares G,Pereda A,Tejada MI

    更新日期:2020-02-14 00:00:00

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    journal_title:Frontiers in neurology



    authors: Liu J,Luo X,Chen X,Shang H

    更新日期:2020-10-15 00:00:00

  • The Paradoxical Protective Effect of Liver Steatosis on Severity and Functional Outcome of Ischemic Stroke.

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Baik M,Kim SU,Nam HS,Heo JH,Kim YD

    更新日期:2019-04-12 00:00:00

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Chen X,He X,Luo S,Feng Y,Liang F,Shi T,Huang R,Pei Z,Li Z

    更新日期:2018-09-26 00:00:00

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    journal_title:Frontiers in neurology

    pub_type: 杂志文章


    authors: Zhang R,Liu G,Jiang Y,Li G,Pan Y,Wang Y,Wei Z,Wang J,Wang Y

    更新日期:2018-10-02 00:00:00

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    abstract::Stroke is a leading cause of death and disability worldwide. While various risk factors have been identified, sleep has only been considered a risk factor more recently. Various epidemiologic studies have associated stroke with sleep such as sleep duration, and laboratory and clinical studies have proposed various und...

    journal_title:Frontiers in neurology

    pub_type: 杂志文章,评审


    authors: Phua CS,Jayaram L,Wijeratne T

    更新日期:2017-08-08 00:00:00