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1.
Tommaso Schirinzi Federica Graziola Raffaella Cusmai Lucia Fusco Francesco Nicita Mirella Elia Lorena Travaglini Enrico Bertini Paolo Curatolo Federico Vigevano Alessandro Capuano 《Brain & development》2018,40(5):433-438
Background
Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease caused by mutations in ATP1A3 gene codifying for alpha3 subunit of Na+-K+ ATPase pump. Repeated and transient attacks of hemiplegia, usually affecting one side of the body or the other, or both sides of the body at once, are the core features of AHC. Monocular nystagmus, other abnormalities in ocular movements, dystonic posturing and epilepsy are commonly associated to AHC. However, the spectrum of ATP1A3 related diseases is still expanding and new phenotypes have been reported.Case report
Here, we described a patient who developed a severe early onset drug-resistant epileptic encephalopathy and months later, he presented episodes of hemiplegic attacks and monocular nystagmus. Thus, AHC was hypothesized and a novel mutation in ATP1A3 gene was found. Interestingly, ketogenic diet (KD) was started and both epileptic seizures and classical AHC paroxysmal episodes stopped. Long-term follow-up shows a global improvement of neurological development.Conclusions
Our case reinforces the role of KD as a novel therapeutic option for ATP1A3-related conditions. However, proper dedicated confirmatory trials on KD are necessary. 相似文献2.
Kohji Kato Seiji Mizuno Mie Inaba Shinobu Fukumura Naoko Kurahashi Koichi Maruyama Daisuke Ieda Kei Ohashi Ikumi Hori Yutaka Negishi Ayako Hattori Shinji Saitoh 《Brain & development》2018,40(8):678-684
Background
Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clinical features present during childhood in patients with a PTEN mutation are yet to be elucidated.Methods
PTEN mutations were investigated by multiplex targeted sequencing of genomic DNA from 33 children with increased head circumference (>+2 SD) and developmental delay. The clinical features of all the patients with a PTEN mutation were abstracted by dysmorphologists.Results
We have identified six children with a PTEN mutation. Clinical dissection of these six patients, in addition to patient reports in the literature, revealed distinctive facial features that included frontal bossing, dolichocephaly, horizontal eyebrows, and a depressed nasal bridge. Macrocephaly (+3.2 to +6.0 SD) was noticeable compared to their height (?0.8 to +2.1 SD), and the difference in the SD value of head circumference and height was more than 3 SD in all patients.Conclusion
The presence of distinctive facies, extreme macrocephaly with normal to mildly high stature, and developmental delay may be useful for identifying patients with a PTEN mutation in childhood. Early identification of patients with a PTEN mutation would help uncover the natural course of tumor development in this group of individuals who have a possible predisposition to cancer, and be important for the development of an optimal surveillance strategy. 相似文献3.
Background
Periodic paralysis (PP) is an autosomal dominant muscle disorder characterized by periodic muscle weakness attacks associated with serum potassium level variations. It is classified into hypokalemic (hypoKPP), hyperkalemic (hyperKPP), and normokalemic (normoKPP) forms based on the ictal serum potassium level. HyperKPP and normoKPP are caused by mutations of the same gene SCN4A, the gene encoding the skeletal muscle voltage-gated sodium channel. Prophylactic treatment with thiazide diuretics is highly effective in preventing attacks in hyperKPP. However, the efficacy and safety of such diuretics in normoKPP remain unclear.Case
We describe a familial case of normoKPP wherein the affected individuals showed periodic muscle weakness attacks, with an early childhood onset, and a lack of serum potassium level variation during the paralytic attacks. Sequencing analysis of SCN4A gene revealed a heterozygous missense mutation (c. 2111C?>?T, p. Thr704Met) in all symptomatic family members. Oral administration of hydrochlorothiazide, a thiazide diuretic, markedly improved the paralytic attack frequency and duration in the affected individuals without adverse effects.Conclusion
Our case demonstrates the efficacy of hydrochlorothiazide in the prophylactic treatment of normoKPP caused by the SCN4A mutation of p.Thr704Met, the most frequent mutation of hyperKPP. 相似文献4.
Toru Takaori Akira Kumakura Atsushi Ishii Shinichi Hirose Daisuke Hata 《Brain & development》2017,39(1):72-74
Background
SCN1A is the gene that codes for the neuronal voltage-gated sodium-channel alpha-subunit 1. It is generally considered that an SCN1A truncating mutation causes the severe phenotype of Dravet syndrome.Patients
We describe 11- and 4-year-old male patients presenting with mild Dravet syndrome with a truncating mutation of SCN1A. The former patient showed moderate mental retardation; however, seizure was controlled to almost one incident a year by levetiracetam and topiramate. Carbamazepine was also effective, which is atypical of Dravet syndrome. The latter patient showed a borderline developmental quotient and did not have episodes of afebrile seizure.Conclusion
Two patients presented with mild Dravet syndrome, even though they had a truncating mutation of SCN1A. Not all truncating mutations of SCN1A cause the severe phenotype of Dravet syndrome. 相似文献5.
Jin Sook Lee Jong-Moon Choi Moses Lee Soo Yeon Kim Sangmoon Lee Byung Chan Lim Jung-Eun Cheon In-One Kim Ki Joong Kim Murim Choi Moon-Woo Seong Jong-Hee Chae 《Brain & development》2018,40(5):383-390
Background
GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other neurodegenerative diseases, its diagnosis is sometimes challenging, especially in the late infantile form with less severe phenotype. We aim to expand the clinical and genetic spectrum of late infantile GM1 gangliosidosis.Methods
We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of β-galactosidase activity. We identified the first two cases by whole-exome sequencing, and then the other six cases by direct sequencing of GLB1 with enzyme analysis.Results
All eight patients presented with developmental delay or regression during late infancy and later developed epilepsy, mostly intractable generalized tonic seizures. No clinical signs of storage disorders were noted except for skeletal abnormalities. Interestingly, we found aspartate transaminase (AST) elevations alone with normal alanine transaminase (ALT) levels in all patients. The recurrent mutation, p.D448V in GLB1, accounted for 50.0% of total alleles in our cohort.Conclusions
With a high index of clinical suspicion, skeletal survey and AST level would be important for early diagnosis of GM1 gangliosidosis. In addition, we would highlight the clinical usefulness of whole-exome sequencing in the diagnosis of non-classical presentation of ultra-rare neurodegenerative disease in children. 相似文献6.
Gian Maria Fabrizi Stefano Tamburin Tiziana Cavallaro Ilaria Cabrini Moreno Ferrarini Federica Taioli Francesca Magrinelli Giampietro Zanette 《Clinical neurophysiology》2018,129(1):21-32
Objective
Nerve ultrasound (US) data on myelin protein zero (MPZ)-related Charcot-Marie-Tooth disease (CMT) are lacking. To offer a comprehensive perspective on MPZ-related CMTs, we combined nerve US with clinics, electrodiagnosis and histopathology.Methods
We recruited 36 patients (12 MPZ mutations), and correlated nerve US to clinical, electrodiagnostic measures, and sural nerve biopsy.Results
According to motor nerve conduction velocity (MNCV) criteria, nine patients were categorized as “demyelinating” CMT1B, 17 as “axonal” CMT2I/J, and 10 as dominant “intermediate” CMTDID. Sural nerve biopsy showed hypertrophic de-remyelinating neuropathy with numerous complex onion bulbs in one patient, de-remyelinating neuropathy with scanty/absent onion bulbs in three, axonal neuropathy in two, mixed demyelinating-axonal neuropathy in five. Electrodiagnosis significantly differed in CMT1B vs. CMT2I/J and CMTDID subgroups. CMT1B had slightly enlarged nerve cross sectional area (CSA) especially at proximal upper-limb (UL) sites. CSA was negatively correlated to UL MNCV and not increased at entrapment sites. Major sural nerve pathological patterns were uncorrelated to UL nerve US and MNCV.Conclusions
Sural nerve biopsy confirmed the wide pathological spectrum of MPZ-CMT. UL nerve US identified two major patterns corresponding to the CMT1B and CMT2I/J-CMTDID subgroups.Significance
Nerve US phenotype of MPZ-CMT diverged from those in other demyelinating peripheral neuropathies and may have diagnostic value. 相似文献7.
Vykuntaraju K. Gowda Tamilarasan Udhayabanu Perumal Varalakshmi Varunvenkat M. Srinivasan Balasubramaniem Ashokkumar 《Brain & development》2018,40(7):582-586
Background
Fazio-Londe syndrome also called progressive bulbar palsy of childhood is a very rare motor neuron disease of pediatric age group characterized by progressive paralysis of lower cranial nerves.Objective
To describe Fazio-Londe syndrome in sibling with different phenotype.Methods
A 6?years old female child presented with inability to close eyes, difficulty in swallowing, respiratory muscle weakness and voice change since 5?yr of age. Examination showed lower motor neuron facial nerve palsy, absent gag reflex, tongue atrophy, fasciculation, limb wasting and exaggerated deep tendon reflexes. An 11?year old boy, elder sibling of the above child presented with similar complaints at 10?years of age, other than later onset and lack of respiratory problem. Genetic testing in both cases confirmed the diagnosis of Fazio-Londe Syndrome.Conclusion
In any child who presents with progressive bulbar palsy with lower motor neuron facial palsy a diagnosis of Fazio-Londe Syndrome should be considered and family members should also be screened. 相似文献8.
Hai-Yan Zhou Fei-Xia Zhan Wo-Tu Tian Chao Zhang Yan Wang Ze-Yu Zhu Xiao-Li Liu Yang-Qi Xu Xing-Hua Luan Xiao-Jun Huang Sheng-Di Chen Li Cao 《Clinical neurophysiology》2018,129(11):2435-2441
Objective
To unravel if there was muscular ion channel dysfunction in paroxysmal kinesigenic dyskinesia (PKD) patients using the exercises tests (ET).Methods
Sixty PKD patients including 28 PRRT2 mutations carriers were enrolled in this study, as well as 19 hypokalaemic periodic paralysis (HypoPP) patients as the positive controls and 45 healthy subjects as the negative controls. ET including long exercise test (LET) and short exercise test (SET) was performed in the corresponding subjects.Results
In the LET, both the overall PKD patients and HypoPP patients had greater CMAP amplitude and area increments during exercise than healthy controls. At most 25% of PKD patients were identified from the normality with greater amplitude increment than the area. On the contrary, 50% of HypoPP patients were differentiated with greater area increment than the amplitude. More percentage of PRRT2? patients than PRRT2+ patients had abnormal average amplitude increment. Unexpectedly, five PKD patients had abnormal maximum CMAP amplitude decrements after exercise in the LET, and one had abnormal maximum immediate amplitude decrement in the SET.Conclusions
Distinct ET manifestations were found in PKD patients compared to normal controls and HypoPP patients.Significance
Abnormal muscle membrane excitability might be involved in the mechanisms responsible for PKD. 相似文献9.
Maria-Ioanna Stefanou Debora Desideri Justus Marquetand Paolo Belardinelli Christoph Zrenner Holger Lerche Ulf Ziemann 《Clinical neurophysiology》2017,128(12):2503-2509
Objective
Mutations in STX1B encoding the presynaptic protein syntaxin-1B are associated with febrile seizures with or without epilepsy. It is unclear to what extent these mutations are linked to abnormalities of cortical glutamatergic or GABAergic neurotransmission. We explored this question using single- and paired-pulse transcranial magnetic stimulation (TMS) excitability markers.Methods
We studied nine currently asymptomatic adult STX1B mutation carriers with history of epilepsy and febrile seizures, who had been seizure-free for at least eight years without antiepileptic drug treatment, and ten healthy age-matched controls. Resting motor threshold (RMT), and input-output curves of motor evoked potential (MEP) amplitude, short-interval intracortical inhibition (SICI, marker of GABAAergic excitability) and intracortical facilitation (ICF, marker of glutamatergic excitability) were tested.Results
RMT, and input-output curves of MEP amplitude, SICI and ICF revealed no significant differences between STX1B mutation carriers and healthy controls.Conclusions
Findings suggest normal motor cortical GABAAergic and glutamatergic excitability in currently asymptomatic STX1B mutation carriers.Significance
TMS measures of motor cortical excitability show utility in demonstrating normal excitability in adult STX1B mutation carriers with history of seizures. 相似文献10.
Adaptation of feedforward movement control is abnormal in patients with cervical dystonia and tremor
Laura Avanzino Andrea Ravaschio Giovanna Lagravinese Gaia Bonassi Giovanni Abbruzzese Elisa Pelosin 《Clinical neurophysiology》2018,129(1):319-326
Objective
It is under debate whether the cerebellum plays a role in dystonia pathophysiology and in the expression of clinical phenotypes. We investigated a typical cerebellar function (anticipatory movement control) in patients with cervical dystonia (CD) with and without tremor.Methods
Twenty patients with CD, with and without tremor, and 17 healthy controls were required to catch balls of different load: 15 trials with a light ball, 25 trials with a heavy ball (adaptation) and 15 trials with a light ball (post-adaptation). Arm movements were recorded using a motion capture system. We evaluated: (i) the anticipatory adjustment (just before the impact); (ii) the extent and rate of the adaptation (at the impact) and (iii) the aftereffect in the post-adaptation phase.Results
The anticipatory adjustment was reduced during adaptation in CD patients with tremor respect to CD patients without tremor and controls. The extent and rate of adaptation and the aftereffect in the post-adaptation phase were smaller in CD with tremor than in controls and CD without tremor.Conclusion
Patients with cervical dystonia and tremor display an abnormal predictive movement control.Significance
Our findings point to a possible role of cerebellum in the expression of a clinical phenotype in dystonia. 相似文献11.
Mauro Manconi Raffaele Ferri Silvia Miano Michelangelo Maestri Valentina Bottasini Marco Zucconi Luigi Ferini-Strambi 《Clinical neurophysiology》2017,128(6):875-881
Objective
Benzodiazepines (BZDs) are the most commonly prescribed compounds in insomnia. A long-term of BZDs use may cause dependence and abuse. The aim of this study was to evaluate sleep architecture and microstructure (in terms of cyclic alternating pattern – CAP – analysis and of sleep EEG power spectral analysis) in a group of long-term users of high doses of BZDs for their primary chronic insomnia.Methods
Twenty patients consecutively admitted at the Sleep Centre for drug discontinuation and 13 matched healthy controls underwent a full nocturnal video-polysomnographic recording, after one adaptation night.Results
Significant differences were found in time in bed, REM sleep latency and sleep stage 1% which were increased in patients compared to controls, while CAP rate was dramatically decreased. During NREM sleep, patients showed a clear decrease in the relative power of delta band.Conclusions
Our data demonstrate that in adults with chronic insomnia, long-term use of high doses of BZDs induces a severe disruption of sleep microstructure, while sleep architecture seems to be much less affected.Significance
The long term use of high doses of BZDs for chronic insomnia induces a marked depression of slow wave activity and of its physiological instability. 相似文献12.
Ana Catarina Franco Olympia Kremmyda Jan Rémi Soheyl Noachtar 《Clinical neurophysiology》2018,129(5):952-955
Objective
Positive interictal epileptiform discharges (IEDs) are rarely recorded from surface EEG, due to the orientation of the cortex and its neurons. Their frequency and significance in adults is unknown, and has only been studied as a phenomenon of the neonatal period and childhood. We aimed to evaluate the frequency and characteristics of positive epileptiform discharges in a large cohort of patients.Methods
We retrospectively reviewed 24,178 reports from 18,060 patients of non-invasively recorded EEGs for various indications.Results
Positive IEDs were recorded in six patients (eight EEGs – 0.033%), all of which had epileptic seizures. Brain surgery was the most common reason for recording positive and not negative IEDs. Cortical malformation was the most probable etiology in the remaining patients.Conclusions
Positive IEDs seem to be of lower frequency in adults than in children and are highly associated with epilepsy. They appear more often, but not exclusively, in adult patients with skull defects.Significance
This is the first adult series reported. Positive IEDs must be identified for the correct diagnosis and clearly differentiated from normal variants. 相似文献13.
Karim Benmouna Christophe Milants François Charles Wang 《Clinical neurophysiology》2018,129(2):341-344
Objective
The aim of this study was to evaluate how the motor unit number index (MUNIX) is related to the adapted multiple point stimulation (AMPS) technique.Methods
MUNIX and AMPS technique were prospectively performed on thenar muscles in 20 consecutive patients referred to our neurophysiological laboratory with the clinical diagnosis of a possible motoneurone disorder (MND). The clinical and paraclinical assessment confirmed the diagnosis of MND in 13 out of 20 patients, amyotrophic lateral sclerosis (ALS) in 9 (with MND group). In the other 7 patients, there were neither evidence of MND, nor of any peripheral nervous system disease (without MND group).Results
AMPS and MUNIX data were significantly (p?<?0.001) lower in patients with MND than in patients without MND. There was a strong significant positive linear correlation between AMPS and MUNIX values (n?=?20; R?=?0.83; p?<?0.01).Conclusion
Both MUNIX and AMPS methods could serve as a reliable marker to document the motor unit loss.Significance
The present paper constitutes one more clue of MUNIX reliability. 相似文献14.
Eleonora Tobaldini Edgar Toschi-Dias Pietro Davide Trimarchi Nicola Brena Angela Comanducci Silvia Casarotto Nicola Montano Guya Devalle 《Clinical neurophysiology》2018,129(5):1083-1089
Objectives
Patients with chronic disorders of consciousness (DOC) may show alterations of autonomic function; however, in this clinical population, no data are available on the specific effects of nociceptive stimuli on cardiac autonomic control. Thus, we aimed at investigating the effects of a noxious stimulation on heart rate variability (HRV) in a population of patients with chronic DOC, taking into account different states of consciousness (vegetative state/unresponsive wakefulness syndrome, VS/UWS and minimally conscious state, MCS).Methods
We enrolled twenty-four DOC patients (VS/UWS, n?=?12 and MCS, n?=?12). ECG and respiration were recorded during baseline, immediately after the nociceptive stimulus and, finally, during the recovery period. Linear and nonlinear HRV measures were used to evaluate the cardiac autonomic control.Results
In DOC patients, nonlinear HRV analysis showed that nociceptive stimuli are able to elicit a change of autonomic function characterized by an increased sympathetic and a reduced vagal modulation. A significant reduction of autonomic complexity has also been detected. More interestingly, VS/UWS patients showed a less complex dynamics compared to MCS patients.Conclusions
Cardiac autonomic responses are able to significantly differentiate the autonomic function between VS/UWS and MCS patients.Significance
Nonlinear HRV analysis may represent a useful tool to characterize the cardiac autonomic responses to nociceptive stimuli in a chronic DOC population. 相似文献15.
Satoru Ikemoto Shin-ichiro Hamano Susumu Yokota Reiko Koichihara Yuko Hirata Ryuki Matsuura 《Clinical neurophysiology》2018,129(9):1920-1925
Objective
To determine whether the characteristics of scalp-recorded high frequency oscillations, especially ripples, can predict the “atypical forms” of benign epilepsy of childhood with centrotemporal spikes (ABECTS), in BECTS.Methods
Seven patients with ABECTS and eighteen patients with BECTS underwent electroencephalography (EEG) in the secondary bilateral synchrony (SBS) and non-SBS periods for ABECTS patients. SBS period is that when more than 50% of the interictal epileptiform discharges (IEDs) are bilaterally synchronized. We determined the IED-ripple co-occurrence rate, performed time frequency analysis, and calculated the asymmetry index (AI).Results
The IEDs-ripple co-occurrence rate increased in the SBS compared to the non-SBS period. Time frequency analysis showed higher high-frequency activity rate and peak power in the SBS than in the non-SBS period. The AI was lower in ABECTS than BECTS, both in the non-SBS and SBS periods.Conclusions
Ripples were enhanced in the SBS period of ABECTS, and bilaterally synchronized both in the non-SBS and SBS periods, whereas ripples in BECTS were localized unilaterally.Significance
Bilaterally synchronized ripples in the non-SBS period of ABECTS may distinguish ABECTS from BECTS in the non-SBS period of IEDs, and may be helpful for early detection of progressive neurophysiological regression leading to early intervention. 相似文献16.
Chaojun Zheng Yu Zhu Cong Nie Feizhou Lu Dongqing Zhu Robert Weber Jianyuan Jiang 《Clinical neurophysiology》2018,129(7):1383-1389
Objective
To investigate the changes in motor axonal excitability properties in cervical spondylotic amyotrophy (CSA).Methods
Threshold tracking was used to measure the median motor axons in 21 patients with CSA, 10 patients with cervical spondylotic radiculopathy (CSR) and 16 normal controls.Results
Compared with normal controls, patients with distal-type CSA showed increased threshold electrotonus hyperpolarization (TEh [90–100]) and increased superexcitability on the symptomatic side (P?<?0.05), which are suggestive of distal motor axonal hyperpolarization, presumably due to motor axonal regeneration. More importantly, compared with normal controls and CSR cases, both distal- and proximal-type CSA cases showed lower accommodation during depolarising currents (reduced S2 accommodation, decreased TEd [undershoot] and/or lower subexcitability) (P?<?0.05), indicating that slow K+ conductance may be less active in motor axons in patients with CSA.Conclusions
The present study demonstrated changes in motor axonal excitability in patients with CSA compared with both normal controls and patients with CSR.Significance
Less expression of slow K+ conductance may confer greater instability in membrane potential in CSA, thereby presumably contributing to the increased vulnerability of motor axons in patients with CSA. 相似文献17.
Lulu Kang Yu Wang Xiaolan Gao Wenjuan Qiu Jun Ye Lianshu Han Xuefan Gu Huiwen Zhang 《Brain & development》2018,40(10):876-883
Background
Gaucher disease (GD) is one of the most common lysosomal storage diseases resulting from a deficiency of glucocerebrosidase. Three main types have been described, with type 2 being the most rare and severe form. Here we investigated the clinical symptoms and mutation spectrum in 20 unrelated type 2 GD patients.Method
The diagnosis of GD was based on the acid β-glucocerebrosidase (GBA) enzyme activity and direct sequencing of the GBA gene. GBA activity was measured in leukocytes and the GBA gene was amplified by a polymerase chain reaction (PCR). For patient 7, the GBA gene was analyzed by PCR as well as quantitative real-time PCR.Results
The age of onset was under 12?months for all patients. All patients experienced severe neurological involvement. A total of 19 different GBA gene mutations were identified, including 6 novel mutations: two were exonic point mutations, c.1127T?>?C (p.Phe376Ser), c.1418T?>?G (p.Val473Gly); one was splicing error, ISV7-1G?>?C; one was insertion, c.717_718insACAG; and the other two were a gross deletion that involved exon 6 and a recombinant allele. The most prevalent mutation was Leu483Pro, which constituted 42.5% of all mutant alleles and was associated with a neurological form in Chinese GD patients as calculated by a Fisher’s exact test.Conclusion
The clinical characteristics of Chinese type 2 GD were consistent with reports from other ethnic populations. We identified 6 novel mutations that contribute to the spectrum of GBA gene mutations. Our study confirmed that GD patients with the Leu483Pro allele were prone to experience neurological symptoms. 相似文献18.
Aleksandra Vučković Mohammed Jarjees Muhammad Abul Hasan Makoto Miyakoshi Matthew Fraser 《Clinical neurophysiology》2018,129(8):1669-1679
Objectives
Spinal Cord Injured (SCI) persons with and without Central Neuropathic Pain (CNP) show different oscillatory brain activities during imagination of movement. This study investigates whether they also show differences in movement related cortical potentials (MRCP).Methods
SCI paraplegic patients with no CNP (n?=?8), with CNP in their lower limbs (n?=?8), and healthy control subjects (n?=?10) took part in the study. EEG clustering involved independent component analysis, equivalent current dipole fitting, and Measure Projection to define cortical domains that have functional modularity during the motor imagery task.Results
Three domains were identified: limbic system, sensory-motor cortex and visual cortex. The MRCP difference between the groups of SCI with and without CNP was reflected in a domain located in the limbic system, while the difference between SCI patients and control subjects was in the sensorimotor domain. Differences in MRCP morphology between patients and healthy controls were visible for both paralysed and non paralysed limbs.Conclusion
SCI but not CNP affects the movement preparation, and both SCI and CNP affect sensory processes.Significance
Rehabilitation strategies of SCI patients based on MRCP should take into account the presence of CNP. 相似文献19.
Lin-Mei Chiang Go-Shine Huang Chi-Chin Sun Ying-Li Hsiao Chung Kun Hui Mei-Hua Hu 《Brain & development》2018,40(9):775-780
Purpose
Epilepsy is an important neurological condition that frequently associated with neurobehavioral disorders in childhood. Our aim was to identify the risk of developing epilepsy subsequent to febrile seizure and the association between epilepsy risk factors and neurobehavioral disorders.Subjects and methods
This longitudinal population-based cohort data included 952 patients with a febrile seizure diagnosis and 3808 age- and sex-matched controls. Participants were recruited for the study from 1996 to 2011, and all patients were followed up for maximum 12.34?years.Results
The association of epilepsy was significantly higher (18.76-fold) in individuals that experienced febrile seizure compared to controls. Further, of those individuals who experienced febrile seizure, the frequency of subsequent development of epilepsy was 2.15-fold greater in females, 4.846-fold greater in patients with recurrent febrile seizure, and 11.26-fold greater patients with comorbid autism.Conclusions
Our study showed that being female, comorbid autism with febrile seizure and recurrent febrile seizure had an increased association with development of epilepsy. Increased recognition the association for epilepsy might be warranted in those febrile seizure children with certain characteristics. 相似文献20.
Masayuki Itoh Shuhei Ide Yuji Iwasaki Takashi Saito Keishi Narita Hongmei Dai Shinji Yamakura Takeki Furue Hirotsugu Kitayama Keiko Maeda Eihiko Takahashi Kiyoshi Matsui Yu-ichi Goto Sen Takeda Masataka Arima 《Brain & development》2018,40(4):259-267