The phenotypic spectrum of SCN8A encephalopathy.

Abstract:

OBJECTIVE:SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS:We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic encephalopathies. In addition, we ascertained cases with SCN8A mutations from other centers. A detailed clinical history was obtained together with a review of EEG and imaging data. RESULTS:Seventeen patients with de novo heterozygous mutations of SCN8A were studied. Seizure onset occurred at a mean age of 5 months (range: 1 day to 18 months); in general, seizures were not triggered by fever. Fifteen of 17 patients had multiple seizure types including focal, tonic, clonic, myoclonic and absence seizures, and epileptic spasms; seizures were refractory to antiepileptic therapy. Development was normal in 12 patients and slowed after seizure onset, often with regression; 5 patients had delayed development from birth. All patients developed intellectual disability, ranging from mild to severe. Motor manifestations were prominent including hypotonia, dystonia, hyperreflexia, and ataxia. EEG findings comprised moderate to severe background slowing with focal or multifocal epileptiform discharges. CONCLUSION:SCN8A encephalopathy presents in infancy with multiple seizure types including focal seizures and spasms in some cases. Outcome is often poor and includes hypotonia and movement disorders. The majority of mutations arise de novo, although we observed a single case of somatic mosaicism in an unaffected parent.

journal_name

Neurology

journal_title

Neurology

authors

Larsen J,Carvill GL,Gardella E,Kluger G,Schmiedel G,Barisic N,Depienne C,Brilstra E,Mang Y,Nielsen JE,Kirkpatrick M,Goudie D,Goldman R,Jähn JA,Jepsen B,Gill D,Döcker M,Biskup S,McMahon JM,Koeleman B,Harris M,Bra

doi

10.1212/WNL.0000000000001211

subject

Has Abstract

pub_date

2015-02-03 00:00:00

pages

480-9

issue

5

eissn

0028-3878

issn

1526-632X

pii

WNL.0000000000001211

journal_volume

84

pub_type

杂志文章
  • Metabolism of (-) deprenyl to amphetamine and methamphetamine may be responsible for deprenyl's therapeutic benefit: a biochemical assessment.

    abstract::The urinary excretion of some important phenylethylamines, catecholamines, their metabolites, amphetamine, and methamphetamine were measured in parkinsonian patients on Sinemet (L-dopa plus carbidopa, a peripheral dopadecarboxylase inhibitor) and depressed patients after chronic (-) deprenyl treatment. Deprenyl was ef...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.32.5.503

    authors: Karoum F,Chuang LW,Eisler T,Calne DB,Liebowitz MR,Quitkin FM,Klein DF,Wyatt RJ

    更新日期:1982-05-01 00:00:00

  • Incidence of acquired demyelination of the CNS in Canadian children.

    abstract:BACKGROUND:The incidence of acquired demyelination of the CNS (acquired demyelinating syndromes [ADS]) in children is unknown. It is important that physicians recognize the features of ADS to facilitate care and to appreciate the future risk of multiple sclerosis (MS). OBJECTIVE:To determine the incidence, clinical fe...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000339482.84392.bd

    authors: Banwell B,Kennedy J,Sadovnick D,Arnold DL,Magalhaes S,Wambera K,Connolly MB,Yager J,Mah JK,Shah N,Sebire G,Meaney B,Dilenge ME,Lortie A,Whiting S,Doja A,Levin S,MacDonald EA,Meek D,Wood E,Lowry N,Buckley D,Yim

    更新日期:2009-01-20 00:00:00

  • CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.

    abstract::Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in 35 sporadic cases with either single or multiple CCM. It was found that 29% of the individuals with multiple CCM have a CCM1 mutation, whereas cases with only on...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000118299.55857.bb

    authors: Verlaan DJ,Laurent SB,Sure U,Bertalanffy H,Andermann E,Andermann F,Rouleau GA,Siegel AM

    更新日期:2004-04-13 00:00:00

  • Vestibular thalamus: Two distinct graviceptive pathways.

    abstract:OBJECTIVE:To determine whether there are distinct thalamic regions statistically associated with either contraversive or ipsiversive disturbance of verticality perception measured by subjective visual vertical (SVV). METHODS:We used modern statistical lesion behavior mapping on a sample of 37 stroke patients with isol...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000002238

    authors: Baier B,Conrad J,Stephan T,Kirsch V,Vogt T,Wilting J,Müller-Forell W,Dieterich M

    更新日期:2016-01-12 00:00:00

  • Prospective study of new-onset seizures presenting as status epilepticus in childhood.

    abstract:OBJECTIVE:To characterize children with new-onset seizures presenting as status epilepticus at a tertiary care children's hospital. METHODS:Prospectively collected data were reviewed from a database derived from a mandated critical care pathway. A total of 1,382 patients presented with new-onset seizures between 2001 ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181d0cca2

    authors: Singh RK,Stephens S,Berl MM,Chang T,Brown K,Vezina LG,Gaillard WD

    更新日期:2010-02-23 00:00:00

  • Serum-mediated Schwann cell cytotoxicity in the Guillain-Barré syndrome.

    abstract::To study the anti-Schwann cell activity of serum from patients with Guillain-Barré syndrome (GBS), we used a 51Cr-release cytotoxicity assay. Specific release of 51Cr mediated by GBS serum did not differ from that with normals or disease controls. Heating sera from GBS patients or controls at 56 or 50 degrees C for 30...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.34.9.1240

    authors: Lisak RP,Kuchmy D,Armati-Gulson PJ,Brown MJ,Sumner AJ

    更新日期:1984-09-01 00:00:00

  • Cyproheptadine reduces or prevents ischemic central nervous system damage.

    abstract::Several drugs that inhibit the effects of serotonin may reduce or prevent experimental CNS ischemic damage, but these drugs are not approved for human use in the United States. Administration of cyproheptadine (which is available for clinical use) 15 minutes before or 5 minutes after the onset increased the duration o...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.35.4.584

    authors: Zivin JA

    更新日期:1985-04-01 00:00:00

  • Individual differences in endogenous pain modulation as a risk factor for chronic pain.

    abstract::This review summarizes evidence, primarily from recent human studies, indirectly supporting a novel hypothesis: that the assessment of healthy individuals' responses to standardized noxious stimuli in a controlled laboratory environment has important implications for the later risk of developing a broad spectrum of ch...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/01.wnl.0000171862.17301.84

    authors: Edwards RR

    更新日期:2005-08-09 00:00:00

  • The effects of storage and shaking on the settling properties of phenytoin suspension.

    abstract::Phenytoin suspension (PHY-S) is reported to settle, resulting in uneven drug distribution and variable patient dosing. We designed this study to determine the rate of settling and the amount of agitation needed to resuspend the preparation. To determine the rate of settling, we thoroughly shook three bottles of PHY-S ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.39.2.207

    authors: Sarkar MA,Garnett WR,Karnes HT

    更新日期:1989-02-01 00:00:00

  • Levetiracetam in pregnancy: preliminary experience from the UK Epilepsy and Pregnancy Register.

    abstract::It is not known whether the antiepileptic drug (AED) levetiracetam can be used safely in human pregnancy. As part of a study to determine the risks of major congenital malformations (MCMs) for infants exposed to AEDs in utero, we identified all cases exposed to levetiracetam. Three of 117 exposed pregnancies had an MC...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000244491.48937.55

    authors: Hunt S,Craig J,Russell A,Guthrie E,Parsons L,Robertson I,Waddell R,Irwin B,Morrison PJ,Morrow J

    更新日期:2006-11-28 00:00:00

  • Methylprednisolone selectively affects dystrophin expression in human muscle cultures.

    abstract::Glucocorticoid therapy slows the progression of Duchenne muscular dystrophy. In muscle cultures, the addition of the glucocorticoid methylprednisolone increases myogenesis in most normal mixed and clonal cultures. Conversely, in some normal clonal and most dystrophic cultures, methylprednisolone inhibits fusion. Howev...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.43.2.342

    authors: Hardiman O,Sklar RM,Brown RH Jr

    更新日期:1993-02-01 00:00:00

  • Evidence-based guideline: Treatment of painful diabetic neuropathy: report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.

    abstract:OBJECTIVE:To develop a scientifically sound and clinically relevant evidence-based guideline for the treatment of painful diabetic neuropathy (PDN). METHODS:We performed a systematic review of the literature from 1960 to August 2008 and classified the studies according to the American Academy of Neurology classificati...

    journal_title:Neurology

    pub_type: 指南,杂志文章,评审

    doi:10.1212/WNL.0b013e3182166ebe

    authors: Bril V,England J,Franklin GM,Backonja M,Cohen J,Del Toro D,Feldman E,Iverson DJ,Perkins B,Russell JW,Zochodne D,American Academy of Neurology.,American Association of Neuromuscular and Electrodiagnostic Medicine.,American Acade

    更新日期:2011-05-17 00:00:00

  • Education Research: Online Alzheimer education for high school and college students: A randomized controlled trial.

    abstract:OBJECTIVE:Alzheimer disease (AD) risk factors are present throughout the lifespan. This randomized controlled trial evaluated the effectiveness of various online education strategies concerning AD risk reduction and brain health in younger populations. METHOD:High school and college students were recruited via social ...

    journal_title:Neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1212/WNL.0000000000009859

    authors: Saif N,Niotis K,Dominguez M,Hodes JF,Woodbury M,Amini Y,Sadek G,Scheyer O,Caesar E,Hristov H,Knowlton N,Lee P,McInnis M,Isaacson RS

    更新日期:2020-10-20 00:00:00

  • Enhanced brain levels of 8,12-iso-iPF2alpha-VI differentiate AD from frontotemporal dementia.

    abstract:OBJECTIVE:To quantify the isoprostane 8,12-iso-iPF2alpha-VI in brain tissues obtained from patients with AD, patients with frontotemporal dementia (FTD), and controls. BACKGROUND:Enhanced brain oxidative stress with secondary damage to cellular macromolecules may play a role in the pathogenesis of AD and FTD. The isop...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000070185.02546.5d

    authors: Yao Y,Zhukareva V,Sung S,Clark CM,Rokach J,Lee VM,Trojanowski JQ,Praticò D

    更新日期:2003-08-26 00:00:00

  • Frequency and risk factors of antibody-induced secondary failure of botulinum neurotoxin therapy.

    abstract:OBJECTIVE:To investigate the risk factors of neutralizing antibody (NAB)-induced complete secondary treatment failure (cSTF) during long-term botulinum neurotoxin (BoNT) treatment in various neurologic indications. METHODS:This monocenter retrospective cohort study analyzed the data of 471 patients started on BoNT the...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000009444

    authors: Walter U,Mühlenhoff C,Benecke R,Dressler D,Mix E,Alt J,Wittstock M,Dudesek A,Storch A,Kamm C

    更新日期:2020-05-19 00:00:00

  • AIDS-associated progressive multifocal leukoencephalopathy (PML): comparison to non-AIDS PML with in situ hybridization and immunohistochemistry.

    abstract::We studied brain sections from 10 patients with the acquired immunodeficiency syndrome (AIDS) and progressive multifocal leukoencephalopathy (PML) by in situ hybridization with a biotin-labeled JC virus (JCV) DNA probe and by immunohistochemistry using antibody against the JCV capsid antigen. We compared the results w...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.40.7.1073

    authors: Aksamit AJ,Gendelman HE,Orenstein JM,Pezeshkpour GH

    更新日期:1990-07-01 00:00:00

  • Ischemic stroke subtypes among Mexican Americans and non-Hispanic whites: the BASIC Project.

    abstract::Ischemic stroke subtype distribution was compared between Mexican Americans (MAs) and non-Hispanic whites (NHWs) in a community-based stroke surveillance study in Nueces County, TX. There was no difference in the distribution of stroke subtype by ethnicity (p = 0.19). There was a similar proportion of small-vessel and...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/01.wnl.0000133212.99040.07

    authors: Uchino K,Risser JM,Smith MA,Moyé LA,Morgenstern LB

    更新日期:2004-08-10 00:00:00

  • Minimal thyroid ophthalmopathy.

    abstract::We studied six patients with the clinical, sonographic, CT, and biochemical profile of minimal euthyroid Graves' disease (MEGD). This syndrome was characterized clinically by small but obtrusive and measurable amounts of diplopia related to endocrine ophthalmopathy and the conspicuous absence of systemic or laboratory...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.37.11.1803

    authors: Spector RH,Carlisle JA

    更新日期:1987-11-01 00:00:00

  • Primary hyperparathyroidism and ALS: is there a relation?

    abstract:BACKGROUND:An association between primary hyperparathyroidism (PHP) and amyotrophic lateral sclerosis (ALS) has been noted; however, a causal relation between these disorders has not been confirmed. PATIENTS/METHODS:We report five patients (three men, two women) meeting El Escorial criteria for ALS who also had PHP. I...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.50.6.1795

    authors: Jackson CE,Amato AA,Bryan WW,Wolfe GI,Sakhaee K,Barohn RJ

    更新日期:1998-06-01 00:00:00

  • Neuroanatomy of the self: evidence from patients with frontotemporal dementia.

    abstract:OBJECTIVE:To evaluate the frequency and types of change in "self" seen in frontotemporal dementia (FTD) and to determine the relative involvement of the nondominant and dominant frontal and temporal brain regions in FTD patients with or without changes in a sense of self using neuropsychology tests and neuroimaging. B...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.57.5.817

    authors: Miller BL,Seeley WW,Mychack P,Rosen HJ,Mena I,Boone K

    更新日期:2001-09-11 00:00:00

  • Current treatments of epilepsy.

    abstract::Medical therapy is the mainstay for epilepsy, with most patients well controlled on a single antiepileptic drug (AED). In this non-refractory group, many patients have medication side effects and occasional seizures. Approximately 30% of patients with partial epilepsy and 25% of patients with generalized epilepsy are ...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/wnl.64.12_suppl_3.s2

    authors: Nadkarni S,LaJoie J,Devinsky O

    更新日期:2005-06-28 00:00:00

  • A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

    abstract:OBJECTIVE:To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. METHODS:Patients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. ...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1212/WNL.0000000000005862

    authors: Cabrera-Serrano M,Mavillard F,Biancalana V,Rivas E,Morar B,Hernández-Laín A,Olive M,Muelas N,Khan E,Carvajal A,Quiroga P,Diaz-Manera J,Davis M,Ávila R,Domínguez C,Romero NB,Vílchez JJ,Comas D,Laing NG,Laporte J,Ka

    更新日期:2018-07-24 00:00:00

  • Mild cognitive impairment: Can FDG-PET predict who is to rapidly convert to Alzheimer's disease?

    abstract::Patients with mild cognitive impairment (MCI) were assessed, and a metabolic profile associated with conversion to AD at 18-month follow-up was sought. As compared with nonconverters (n = 10), converters (n = 7) had lower fluorodeoxyglucose uptake in the right temporoparietal cortex (p = 0.02, corrected for cluster si...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000055847.17752.e6

    authors: Chételat G,Desgranges B,de la Sayette V,Viader F,Eustache F,Baron JC

    更新日期:2003-04-22 00:00:00

  • Functional MRI mapping of occipital and frontal cortical activity during voluntary and imagined saccades.

    abstract::We investigated the activation of frontal and occipital cortical areas in 14 normal volunteers during voluntary saccades in light or dark and during imagined saccades using functional magnetic resonance imaging (FMRI) with electro-oculogram monitoring. Voluntary saccades in light or dark and imagined saccades led to a...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.49.2.416

    authors: Bodis-Wollner I,Bucher SF,Seelos KC,Paulus W,Reiser M,Oertel WH

    更新日期:1997-08-01 00:00:00

  • Neuroimaging abnormalities in adults with sickle cell anemia: associations with cognition.

    abstract:OBJECTIVE:This study was conducted to determine the relationship of frontal lobe cortical thickness and basal ganglia volumes to measures of cognition in adults with sickle cell anemia (SCA). METHODS:Participants included 120 adults with SCA with no history of neurologic dysfunction and 33 healthy controls (HCs). Part...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1212/WNL.0000000000000188

    authors: Mackin RS,Insel P,Truran D,Vichinsky EP,Neumayr LD,Armstrong FD,Gold JI,Kesler K,Brewer J,Weiner MW,Neuropsychological Dysfunction and Neuroimaging Adult Sickle Cell Anemia Study Group.

    更新日期:2014-03-11 00:00:00

  • Failure of cholinergic agonist RS-86 to improve cognition and movement in PSP despite effects on sleep.

    abstract::Postmortem studies of patients with progressive supranuclear palsy (PSP) have demonstrated loss of cholinergic neurons in the striatum, nucleus basalis of Meynert, and the pedunculopontine nucleus. These findings suggest that cholinergic drugs might be an effective treatment for this disease. We studied the efficacy o...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章

    doi:10.1212/wnl.39.2.257

    authors: Foster NL,Aldrich MS,Bluemlein L,White RF,Berent S

    更新日期:1989-02-01 00:00:00

  • Detection and cellular localization of enterovirus RNA sequences in spinal cord of patients with ALS.

    abstract:OBJECTIVE:To investigate the possible association of persistent enterovirus (EV) infection with the development of ALS. BACKGROUND:Although ALS is a clinically well-defined motor neuron disease, little is known about the etiology and pathogenesis of the sporadic cases. Among the different causes that have been hypothe...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.54.1.20

    authors: Berger MM,Kopp N,Vital C,Redl B,Aymard M,Lina B

    更新日期:2000-01-11 00:00:00

  • Extended use of glatiramer acetate (Copaxone) is well tolerated and maintains its clinical effect on multiple sclerosis relapse rate and degree of disability. Copolymer 1 Multiple Sclerosis Study Group.

    abstract::When 251 relapsing-remitting patients with multiple sclerosis were randomized to receive daily subcutaneous injections of glatiramer acetate, previously called copolymer 1 (Copaxone; n = 125) or placebo (n = 126) for 24 months, there were no laboratory abnormalities associated with glatiramer acetate treatment and it ...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1212/wnl.50.3.701

    authors: Johnson KP,Brooks BR,Cohen JA,Ford CC,Goldstein J,Lisak RP,Myers LW,Panitch HS,Rose JW,Schiffer RB,Vollmer T,Weiner LP,Wolinsky JS

    更新日期:1998-03-01 00:00:00

  • Detection of elevated levels of α-synuclein oligomers in CSF from patients with Parkinson disease.

    abstract:BACKGROUND:To date, there is no accepted clinical diagnostic test for Parkinson disease (PD) that is based on biochemical analysis of blood or CSF. The discovery of mutations in the SNCA gene encoding α-synuclein in familial parkinsonism and the accumulation of α-synuclein in the PD brain suggested a critical role for ...

    journal_title:Neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1212/WNL.0b013e3181fd613b

    authors: Tokuda T,Qureshi MM,Ardah MT,Varghese S,Shehab SA,Kasai T,Ishigami N,Tamaoka A,Nakagawa M,El-Agnaf OM

    更新日期:2010-11-16 00:00:00

  • Botulinum toxin for simple motor tics: a randomized, double-blind, controlled clinical trial.

    abstract:OBJECTIVE:To determine the effect of injections of botulinum toxin on simple motor tics. BACKGROUND:Case series with unblinded assessments have reported improvement in tic frequency and associated urge with botulinum toxin. METHODS:Patients with suitable simple motor tics were randomized to receive botulinum toxin an...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1212/wnl.56.5.605

    authors: Marras C,Andrews D,Sime E,Lang AE

    更新日期:2001-03-13 00:00:00