Abstract：
:Over the past 10 years mutations in voltage-gated sodium channels (Na(v)s) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Na(v)1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from benign febrile seizures to extremely serious conditions, such as Dravet's syndrome (SMEI). Despite the wealth of information, mutational analyses are cumbersome, owing to inconsistencies among the Na(v)1.1 sequences to which different research groups refer. Splicing variability is the core problem: Na(v)1.1 co-exists in three isoforms, two of them lack 11 or 28 amino acids compared to full-length Na(v).1.1. This review establishes a standardized nomenclature for Na(v)1.1 variants so as to provide a platform from which future mutation analyses can be started without need for up-front data normalization. An online resource--SCN1A infobase--is introduced.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Lossin Cdoi
10.1016/j.braindev.2008.07.011subject
Has Abstractpub_date
2009-02-01 00:00:00pages
114-30issue
2eissn
0387-7604issn
1872-7131pii
S0387-7604(08)00175-7journal_volume
31pub_type
杂志文章,评审abstract：:CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter calle...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.02.008
更新日期：2020-06-01 00:00:00
abstract：AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.10.002
更新日期：2016-04-01 00:00:00
abstract：:Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.07.008
更新日期：2009-06-01 00:00:00
abstract：BACKGROUND:Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding a...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.03.001
更新日期：2020-06-01 00:00:00
abstract：:This study examined paroxysmal abnormalities and epilepsy in EEG for individuals with pervasive developmental disorders (PDD) in two parts: first with a large number of subjects (n=1624); and second with extracted subjects followed from 5 years into adolescence and beyond (n=92). Many paroxysms in PDD patients in thei...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.06.004
更新日期：2010-10-01 00:00:00
abstract：:A case of precocious puberty due to postmeningitic hydrocephalus was presented. Concentrations of serum gonadotropins and estradiol were found to be elevated, and the response of LH to LHRH was also high, similar to that in the late pubertal stage. CT scanning demonstrated marked dilatation of the third ventricle. It ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80047-3
更新日期：1983-01-01 00:00:00
abstract：:We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.03.018
更新日期：2005-11-01 00:00:00
abstract：:Cerebral blood flow was assessed by ultrasound in 12 children with intractable epilepsy who were treated with ACTH. The average maximal blood velocity (A/L) and end-diastolic blood velocity (d) of the internal carotid artery were measured, before, during and after ACTH therapy in each subject. The right and left mean ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80060-7
更新日期：1985-01-01 00:00:00
abstract：:We report a case involving a 15-year-old boy with MELAS (G13513A mutation) who developed several stroke-like episodes in a short period of time. Intravenous administration of l-arginine during the acute phase of the stroke-like episodes reduced symptoms immediately, and oral supplementation of l-arginine successfully ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.07.013
更新日期：2011-06-01 00:00:00
abstract：:The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(80)80026-x
更新日期：1980-01-01 00:00:00
abstract：OBJECTIVE:As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5 min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reli...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.01.012
更新日期：2018-06-01 00:00:00
abstract：:Learning disorders of various types are relatively common, and the reaction of the affected child can lead to social problems. The higher the children's intelligence the more frustrated they can become. Lack of self-esteem can cause unacceptable behaviour in trying to counteract this, and boost the child's confidence....
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(93)90060-l
更新日期：1993-05-01 00:00:00
abstract：:A boy with chronic relapsing dysimmune polyneuropathy was treated with intravenous gammaglobulin injections for the fourth and fifth episodes, and showed rapid clinical improvement compared with in the three previous episodes, when he was treated by high dose steroid administration. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80332-9
更新日期：1990-01-01 00:00:00
abstract：:The aim of this research was to compare the Strengths and Difficulties Questionnaire (SDQ) scores and subscale scores in children with high-functioning autism spectrum disorder (HFASD) and attention-deficit/hyperactivity disorder (AD/HD), and also to clarify the differences between parent- and teacher-assessed SDQ sco...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.009
更新日期：2010-09-01 00:00:00
abstract：PURPOSE:The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EE...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.07.014
更新日期：2013-04-01 00:00:00
abstract：:Body movements (BMs) during sleep in patients with age dependent epileptic encephalopathy (ADEE) were studied polysomnographically in order to clarify the underlying mechanism of intractability and the age dependent trend. Twenty patients were divided into two groups according to the prognosis of convulsions. In the g...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80066-3
更新日期：1986-01-01 00:00:00
abstract：:We report a 9-year-old girl with acute autonomic sensory and motor neuropathy (AASM) associated with human parvovirus B19 (HPV-B19) infection. The patient presented with fever, erythema of the entire body, and abdominal pain with vomiting. The titer of HPV-B19 IgM antibody was significantly elevated. Symptoms such as ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.03.003
更新日期：2011-02-01 00:00:00
abstract：:Oxidative stress resulting from increased free radical production and/or defects in antioxidant defences may be the cause of various neurodegenerative disorders. In this study, the roles of oxygen free radicals, nitric oxide, superoxide dismutase, vitamin E and vitamin C were investigated in pure and complicated hered...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.12.014
更新日期：2010-02-01 00:00:00
abstract：:Short latency somatosensory evoked potentials (SSEPs) and 99mTc-hexamethylpropylene amine oxime single photon emission computed tomography (99mTc-HMPAO SPECT) were examined in a patient with alternating hemiplegia in infancy (AHI) before and after flunarizine treatment. The low amplitude and elongation of the latency ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90032-9
更新日期：1994-07-01 00:00:00
abstract：:The incidence of West syndrome (WS) was determined by a search of reports of electroencephalograms (EEG) recorded in 1998 and 1999 in all public hospitals in Singapore. Amongst records of patients born in 1998, nine were found with EEG features of hypsarrhythmia or modified hypsarrhythmia with onset of seizures betwee...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00277-7
更新日期：2001-11-01 00:00:00
abstract：:We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation i...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.12.013
更新日期：2018-05-01 00:00:00
abstract：:We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80010-8
更新日期：1984-01-01 00:00:00
abstract：:An unique cytoplasmic inclusion was found in astrocytes of a 2-month-old female baby who showed Leigh-like brain lesions with lactic acidosis, hypoglycemia and hepatomegaly. Although a defective enzyme was not determined, a metabolic disorder was suggested from clinicopathological observations. Symmetrically distribut...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00117-0
更新日期：2000-06-01 00:00:00
abstract：:Eighteen female patients are described with the clinical features of Rett syndrome. Fifteen patients fulfill the criteria established by Hagberg et al hereas three represent clinical variants. Detailed biochemical and neurodiagnostic assessment was conducted in all patients. Reduction in cerebrospinal biogenic amine m...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80063-3
更新日期：1987-01-01 00:00:00
abstract：BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.06.008
更新日期：2010-05-01 00:00:00
abstract：:We evaluated brain lesions in patients with coronary arterial lesions (CAL) as a complication of Kawasaki disease (KD) by magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). Among 47 patients who underwent coronary angiography for the evaluation of CAL due to KD at Kyushu University Hospital fro...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.04.003
更新日期：2006-01-01 00:00:00
abstract：:This review presents 21 cases, found in the literature, of a CNS lesion (a tumor in 19 of them) associated with emaciation, anorexia and several psychic symptoms that had led to the diagnosis of anorexia nervosa (AN). Anorexia and psychic disturbances preceded the neurologic signs and/or the correct diagnosis in all p...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(94)90064-7
更新日期：1994-05-01 00:00:00
abstract：:Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.04.004
更新日期：2015-11-01 00:00:00
abstract：:Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00006-6
更新日期：1999-04-01 00:00:00
abstract：:We report sibling cases of aromatic L-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic disorder. These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.05.004
更新日期：2010-06-01 00:00:00
