Abstract：
BACKGROUND:The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epilepsy. OBJECTIVE:To search for the genetic cause of seizures in a girl with the diagnosis of non-familial benign neonatal convulsions, and define the consequence of the genetic abnormality identified. METHODS:Genetic abnormality was explored within candidate genes for benign familial neonatal and infantile convulsions, such as KCNQ2, 3, 5, KCNE2, SCN1A and SCN2A. The electrophysiological properties of the channels harboring the identified mutation were examined. Western blotting and immunostaining were employed to characterize the expression and intracellular localization of the mutant channel molecules. RESULTS:A novel heterozygous mutation (c.910-2delTTC or TTT, Phe304del) of KCNQ2 was identified in the patient. The mutation was de novo verified by parentage analysis. The mutation was associated with impaired functions of KCNQ K(+) channel. The mutant channels were expressed on the cell surface. CONCLUSION:The mutant Phe304del of KCNQ2 leads to null function of the KCNQ K(+) channel but the mutation does not alter proper channel sorting onto the cell membrane. Our findings indicate that the genes responsible for rare inherited forms of idiopathic epilepsy could be also involved in sporadic forms of idiopathic epilepsy and expand our notion of the involvement of molecular mechanisms in the more common forms of idiopathic epilepsy.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Ishii A,Fukuma G,Uehara A,Miyajima T,Makita Y,Hamachi A,Yasukochi M,Inoue T,Yasumoto S,Okada M,Kaneko S,Mitsudome A,Hirose Sdoi
10.1016/j.braindev.2008.05.010subject
Has Abstractpub_date
2009-01-01 00:00:00pages
27-33issue
1eissn
0387-7604issn
1872-7131pii
S0387-7604(08)00124-1journal_volume
31pub_type
杂志文章abstract：:Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.11.005
更新日期：2005-09-01 00:00:00
abstract：:In children, the conditions defined as "ataxia" form a very heterogeneous group. They also often differ from the "ataxias" of adults. In many cases this can be attributed to their different etiology, but probably it is also due to the peculiar functional and physiopathologic characteristics of the cerebellar system du...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80324-x
更新日期：1990-01-01 00:00:00
abstract：:The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.12.004
更新日期：2006-08-01 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：:Abnormalities of the cerebral arteries and the aorta are more common in young patients with tuberous sclerosis than in the rest of the population. Strokes have been reported but there is no confirmation that embolization of cerebral arteries by fragments of cardiac rhabdomyoma plays a role in the higher incidence of s...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(89)80003-8
更新日期：1989-01-01 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：:The neuropathological characteristics and alteration of the dopamine D2 receptor (D2R) were investigated in 27 cases of hypoxic-ischemic basal ganglia necrosis (BGN) by means of neuropathological and immunohistochemical methods. Perinatal hypoxic-ischemic BGN manifested neuronal karyorrhexis as well as eosinophilia, k...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00003-5
更新日期：1998-03-01 00:00:00
abstract：:The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multip...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00557-8
更新日期：1997-04-01 00:00:00
abstract：:This trial sought to evaluate our experience using the antimigraine prophylactic drug, use of valproate for the prophylactic management of cyclic vomiting syndrome (CVS) in children. Thirteen children diagnosed with severe CVS were enrolled. Prophylactic therapy consisted of valproate administered at a dose of 10-40 m...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/j.braindev.2008.07.005
更新日期：2009-06-01 00:00:00
abstract：:We performed neurophysiological studies in 12 patients with the Leigh syndrome (6 pathologically confirmed and 6 clinically diagnosed). The results are compared with data derived from a literature survey of 173 Leigh syndrome patients. We found no positive contribution of neurophysiological studies towards the diagnos...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80004-3
更新日期：1986-01-01 00:00:00
abstract：BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.03.011
更新日期：2018-08-01 00:00:00
abstract：BACKGROUND:Nutritional deficiency in pregnant women is a confirmed cause of neural tube defects (NTDs). Alongside to this background, We sought to determine the nutritional status and level of awareness on the issue of the NTDs as well as folic acid (FA) utilization among women who born infants with NTDs in Tigray regi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.12.005
更新日期：2019-05-01 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：: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：:Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.09.014
更新日期：2012-08-01 00:00:00
abstract：OBJECTIVE:To investigate the clinical and neurophysiological characteristics, particularly therapeutic considerations, of epileptic negative myoclonus (ENM) in atypical benign partial epilepsy (ABPE) of childhood. METHODS:From 1998 to 2006, 14/242 patients with benign children epilepsy with centrotemporal spikes (BECT...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.04.004
更新日期：2009-04-01 00:00:00
abstract：:Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG findings. We report here the results of long-term follow-up studies on the epileptic seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis, including seven cases previously reported by Matsumoto et al. in 1...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.01.009
更新日期：2005-08-01 00:00:00
abstract：PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.07.006
更新日期：2021-01-01 00:00:00
abstract：:For the purpose of early detection and intervention in mentally handicapped children, the mental retardation (MR) Monitoring Research Committee in Japan initiated a survey in 1981 to determine the prevalence rate and etiology of MR children who had been born between 1969 and 1974, that's those currently from 7 to 12 y...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80031-5
更新日期：1984-01-01 00:00:00
abstract：:Glucose transporter type1 (GLUT-1) deficiency may be rare, but it is a preventable cause of severe learning difficulties; and therefore there is an urgency in making an early diagnosis. Suspicions must be roused when intractable seizures occur in infancy. These may be associated with acquired microcephaly and developm...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(03)00058-5
更新日期：2003-10-01 00:00:00
abstract：:Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The male:female ratio for the ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.007
更新日期：2014-02-01 00:00:00
abstract：:Duchenne muscular dystrophy (DMD) is a recessive X-linked genetic disease caused by a mutation in the dystrophin gene. The new drug NS-065/NCNP-01 utilizing exon-skipping therapy targeting specific deletions has been used in a first-in-human trial for the treatment of DMD. We surveyed 10 pairs of DMD participants and ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.01.001
更新日期：2020-04-01 00:00:00
abstract：:Immaturity in water and electrolyte balance in the brain has been considered to increase the susceptibility of young animals and children to febrile convulsions (FCs). Arginine-vasopressin (AVP) is involved in the regulation of several centrally mediated events such as modulation of fever and the ease with which water...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/0387-7604(95)00146-8
更新日期：1996-03-01 00:00:00
abstract：:We report on a 9-year-old boy who presented with acute encephalopathy and hemophagocytic lymphohistiocytosis (HLH). The patient was referred to our hospital because of fever, seizures, and decreased consciousness. He showed moderately elevated levels of proinflammatory cytokines in the cerebrospinal fluid and plasma, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.07.005
更新日期：2012-05-01 00:00:00
abstract：OBJECTIVE:Acute encephalitis with refractory repetitive partial seizure (AERRPS) is a peculiar type of post-encephalitic/encephalopathic epilepsy. Here we report an analysis of AERRPS in a series of children and propose an effective treatment option for seizure control in these children. METHODS:We retrospectively rev...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.09.010
更新日期：2009-09-01 00:00:00
abstract：PURPOSE:Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) is the most common childhood idiopathic focal epilepsy with a good outcome. However, an increasing number of reports suggest a 'not so benign' outcome showing atypical evolution. METHODS:We analyzed the electroencephalographic (EEG) spike source dip...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.06.001
更新日期：2016-11-01 00:00:00
abstract：:Overnight sleep polygrams were recorded before and during therapy in nine patients with infantile spasms. Results showed that ACTH therapy increased the waking time and decreased rapid eye movement sleep. Thus it caused sleep disturbance in patients with infantile spasms. During ACTH therapy the number of rapid eye mo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80006-x
更新日期：1981-01-01 00:00:00
abstract：:Alexander disease is a major entity of leukodystrophy; magnetic resonance imaging (MRI) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance. Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis, which has widened the A...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.10.007
更新日期：2011-08-01 00:00:00
abstract：:We encountered a 10-year-old girl with fluctuating sensorineural hearing loss, episodic headache, and white matter stroke. Strenuous exercise, febrile illness, and general anesthesia all temporarily worsened hearing. Audiologic findings were asymmetric: left-sided retrocochlear dysfunction consistent with auditory neu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.03.012
更新日期：2006-01-01 00:00:00
abstract：:We reported a 2-year-old boy with Lennox-Gastaut syndrome, of which the cause could be an adverse effect of further attenuated live (FL) measles vaccine. The pre- and peri-natal histories of the patient were uneventful, except that he was one of monozygotic twins. He had developed normally until 24 months of life, whe...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00076-5
更新日期：1999-12-01 00:00:00
