Abstract：
BACKGROUND:The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT:A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation. One month after birth, his myoclonuses worsened in frequency. Electroencephalogram (EEG) showed a burst and suppression pattern, and myoclonuses occurred in the burst phase with diffuse polyspikes on EEG. At five months, inter-ictal EEG revealed hypsarrhythmia, but his attacks were still only myoclonuses. ACTH treatment was effective and the myoclonus frequency markedly decreased. At one year of age, whole-exome sequencing revealed a heterozygous mutation of the KCNQ2 gene (NM_172107.2): c.601C>T; p.(Arg201Cys), which was confirmed as de novo by Sanger sequencing. This mutation lies within the extracellular portion of the S4 voltage sensor. CONCLUSION:Most patients with a KCNQ2 mutation present with seizures starting in the neonatal period with varying severity, ranging from BFNS to Ohtahara syndrome. Furthermore, KCNQ2 appears to be a causative gene for EME.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Kojima K,Shirai K,Kobayashi M,Miyauchi A,Saitsu H,Matsumoto N,Osaka H,Yamagata Tdoi
10.1016/j.braindev.2017.06.004subject
Has Abstractpub_date
2018-01-01 00:00:00pages
69-73issue
1eissn
0387-7604issn
1872-7131pii
S0387-7604(17)30173-0journal_volume
40pub_type
杂志文章abstract：:The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80030-9
更新日期：1985-01-01 00:00:00
abstract：:The autopsy report of the juvenile type of metachromatic leukodystrophy is rare. The clinical and pathological difference between the juvenile and the late infantile type of metachromatic leukodystrophy was described. Loss of myelin sheaths was much less in the brain stem and spinal cord in the juvenile type than in t...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80065-4
更新日期：1981-01-01 00:00:00
abstract：:Thirty-one epileptic patients, selected from among 900 children with previous febrile convulsions and subsequent epilepsy, were typed for HLA antigens. In 16 of the 31 patients CMV was isolated from the urine shortly after the appearance of spontaneous fits; in the remaining 15 patients the virus was never detected. A...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(88)80008-1
更新日期：1988-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80046-7
更新日期：1979-01-01 00:00:00
abstract：OBJECTIVE:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.010
更新日期：2013-04-01 00:00:00
abstract：:MRI appearance of Sturge-Weber Syndrome (SWS) in patients with Tuberous Sclerosis (TSC) has been rarely reported. We describe a new patient with confirmed diagnosis of TSC and MRI appearance of SWS and review the pertinent literature. We discuss these findings on the basis of the new classifications of brain malformat...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.06.004
更新日期：2009-05-01 00:00:00
abstract：:Clobazam was added to the previous antiepileptic drug therapy of 90 children suffering from drug resistant epilepsy. Ten patients became seizure free, although four of these later developed tolerance. Thirty-three patients experienced a decrease in seizure frequency, and 24 of these, too, developed tolerance. Forty-fo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80025-8
更新日期：1991-05-01 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
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80119-4
更新日期：1985-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(96)00051-4
更新日期：1996-09-01 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：:The developmental changes in N-acetyl-L-aspartic acid (NAA) were assessed in human fetal and child brains by means of high resolution proton magnetic resonance spectroscopy (MRS). NAA was detected in the cerebral cortex and white matter of fetuses of 16 weeks' gestation. NAA increased gradually from 24 weeks' gestatio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00496-2
更新日期：1997-03-01 00:00:00
abstract：:Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00002-3
更新日期：1998-04-01 00:00:00
abstract：:Zonisamide is widely used for intractable epilepsy and the effects of this drug on fetuses and neonates through the mother taking it for epilepsy need to be clarified. We measured the zonisamide concentration in plasma and breast milk using high-performance liquid chromatography to investigate the transfer of zonisami...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00407-7
更新日期：2002-03-01 00:00:00
abstract：OBJECTIVES:To explore the relationship between autistic regression (AR) with and without EEG abnormalities and favourable outcome. METHODS:Follow up data on children with favourable outcome in a series of 534 cases aged below 5 years and diagnosed as ASD. RESULTS:Cases with regression were 167 (31.8%), usually with p...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.05.004
更新日期：2010-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.09.007
更新日期：2005-08-01 00:00:00
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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：:Coeliac disease, epilepsy and cerebral calcifications (CEC) syndrome is a rare clinical condition. One hundred and seventy-one patients have been reported in the literature. Patients are mostly from Italy, Spain, and Argentina, suggesting a geographically restricted condition. Epilepsy is more frequently characterized...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2004.05.003
更新日期：2005-04-01 00:00:00
abstract：:Eighteen children with diplegic form of cerebral palsy (CP) underwent magnetic resonance imaging (MRI) because of the enlarged occipital horns of both lateral ventricles found on previous computerized tomography (CT). In 16 of them squint was present. MRI in flow attenuated inversion recovery (FLAIR) and turbo spin ec...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00178-4
更新日期：2001-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.10.005
更新日期：2019-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80040-3
更新日期：1989-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80017-0
更新日期：1979-01-01 00:00:00
abstract：:In this retrospective study, we reviewed the charts and collected clinical and radiographic data on children (age range, 1 month to 18 years) with symptoms and radiographic confirmation of ischemic stroke for the period of January 1996 to July 2006. Ninety-four children were enrolled. Eighty-eight had arterial ischemi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.05.002
更新日期：2008-01-01 00:00:00
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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：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.003
更新日期：2016-08-01 00:00:00
abstract：:Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46, XY karyotype. They can cause a broad spectrum of neurodevelopmental ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.10.007
更新日期：2006-06-01 00:00:00
abstract：:Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequential...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80117-6
更新日期：1986-01-01 00:00:00
abstract：:We examined the effects of stimulus rates on the somatosensory evoked potential (SEP) amplitudes following median nerve stimulation at the wrist in 42 children. We divided these subjects into five groups according to their age (0-6 months, 7-12 months, 1-3 years, 4-6 years and more than 7 years) and measured the peak-...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00092-8
更新日期：1999-03-01 00:00:00
abstract：:The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children (ABMS-C). A total of 45 pediatric patients with disabilities (aged 0.1-8.8 years; 29 males, 16 females) participated in this prospective study. To prove the validity and reliabil...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.12.001
更新日期：2011-06-01 00:00:00
abstract：:We report an autopsy case of bathtub drowning in epilepsy. A 26-year-old female with mental retardation had been treated for refractory epilepsy. Her younger sister found her floating supine in the bathtub 45 min after starting bathing. Neuropathological examination revealed cerebral cortical dysplasia in the precentr...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00064-8
更新日期：1997-11-01 00:00:00
