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1.
Shin-ichiro Hamano Toshisaburo Nagai Ryuki Matsuura Yuko Hirata Satoru Ikemoto Atsuko Oba Erika Hiwatari 《Brain & development》2018,40(8):685-692
Objective
To clarify changes in clinical practice for infantile spasms, including West syndrome, in Japan over the past two decades.Methods
We investigated common treatment strategies for infantile spasms among 157 pediatric neurologists from a designated training facility for pediatric neurology and/or a designated training facility for epilepsy in Japan. A questionnaire was used to investigate use of adrenocorticotropic hormone (ACTH) therapy including daily dose, treatment duration, and tapering off period, and preferred first to fifth-line treatment choices.Results
Among 119 responses (75.8%), 107 enabled analysis of ACTH therapy and 112 were used to determine preferred order of first to fifth-line treatments. Over 80% respondents reported an initial ACTH dose of ≤0.0125?mg/kg/day, with a treatment duration of 14?days and various tapering periods. Following an unfavorable response of seizures to ACTH, 80% respondents increased the dose and/or extended treatment duration. The same ACTH therapy regimen was performed for symptomatic and cryptogenic patients at 95 facilities (88.8%). Preferred orders of therapeutic agents were the same for both symptomatic and cryptogenic patients at 64 facilities (57.1%). Over half the respondents selected vitamin B6 or valproate as the first and second-line treatments instead of ACTH therapy, while ACTH therapy was the most frequently selected third-line treatment.Conclusions
Current ACTH therapy regimens have lower doses and shorter durations than previously reported. However, treatment strategies for infantile spasms have not changed much in two decades. ACTH therapy should be the first/second-line treatment rather than third-line or later, especially for cryptogenic infantile spasms. 相似文献2.
Kiyotaka Isobe Hiroshi Matsumoto Yoshiteru Tamura Junya Hashimoto Keiko Matsubara Shigeaki Nonoyama 《Brain & development》2018,40(10):891-896
Objective
To report detail of a patient with infantile spasms whose cytogenetic analysis revealed mosaic monocentric and duplicated supernumerary marker chromosome (SMC) 15.Subject and methods
The subject for this case was a 13-month-old girl with infantile spasms and delayed developmental milestones. Chromosomal analysis with G-band showed the presence of SMC in mosaic. Further investigations using in situ hybridization, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), microsatellite marker, and single nucleotide polymorphism (SNP) array analysis were performed.Results
Her karyotype was noted as mosaic 47,XX,+mar[26]/46,XX[4], ish der(15)(D15Z1+, SNRPN++, PML?) de novo. MS-MLPA analysis showed that the Prader–Willi syndrome/Angelman syndrome critical region is highly methylated, and microsatellite marker analysis proved that the 15q11.2 region of the patient comprises three kinds of alleles: one paternal and two maternal. SNP array analysis suggested an asymmetric structure of SMC(15) composed of 15q11–q13 recombination at breakpoint (BP) 4:BP5.Conclusions
This is the first report of SMC(15) with monocentric and duplicated proximal 15q. The clinical presentations are quite similar to those of isodicentric chromosome 15 syndrome. The results of microsatellite and SNP array analysis suggest two possibilities regarding the timing of the mosaic SMC(15) formation. One possibility is that it occurred during maternal meiosis, and the other possibility is formation during a very early stage of embryo development that was initially trisomic of chromosome 15. 相似文献3.
Introduction
SLC13A5-related epileptic encephalopathy is a recently described autosomal recessive disorder that is characterized by infantile epilepsy and developmental delay. Seizures are markedly drug resistant and often induced by fever; they mainly occur in clusters, sometimes evolving into status epilepticus.Methods and results
We report the use of stiripentol as an adjunctive therapy in three siblings with drug-resistant SLC13A5-related epilepsy. The three patients showed remarkable improvement in the severity and frequency of seizures, status epilepticus, emergency department visits, and alertness.Conclusion
These observations extend the use of stiripentol beyond the classical Dravet syndrome, and further studies on the use of this drug in drug-resistant epilepsy, mainly of genetic origin, are warranted. 相似文献4.
Daiki Kondo Atsuko Noguchi Ikuko Takahashi Hiroki Kubota Tamami Yano Yoko Sato Miyuki Toyono Yukio Sawaishi Tsutomu Takahashi 《Brain & development》2018,40(9):760-767
Objective
To reveal a molecular lesion in the ZC4H2 gene in a Japanese family with arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), and to characterize clinical features of patients with ZC4H2 gene mutations through a literature review.Patients
The probands are male siblings. The elder brother is an 11-year-old boy who showed AMC and ID and frequent postprandial hypoglycemia since 3?years of age. The younger brother also showed AMC, ID, and subclinical postprandial hypoglycemia. The boys’ mother also showed a minor malformation of the left toes.Method and result
Using Sanger sequencing, a hemizygous one base substitution designated c.627G?>?C, which is predicted to substitute asparagine for lysine at amino acid residue 209 (K209N), was identified in the siblings. The mother was heterozygous for this mutation. In silico analysis predicted K209N to be a constituent of a motif required for subcellular localization of the ZC4H2 protein in the nucleus. Transient expression studies of subcellular localization in COS-7 cells showed that compared to the wild-type protein, the transport of the mutant protein into the nucleus was inhibited, thus confirming K209N as a molecular lesion in this family. The literature reviews revealed postprandial hypoglycemia as a new clinical feature that should be considered in ZC4H2 gene-mutation disorders.Conclusion
A Japanese family with AMC and ID caused by a novel ZC4H2 gene mutation was reported. Hypoglycemia should be considered one of the features in this disorder. 相似文献5.
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6.
Yohane Miyata Ken Saida Satoko Kumada Noriko Miyake Hideaki Mashimo Yuya Nishida Ikuko Shirai Eiji Kurihara Yasuhiro Nakata Naomichi Matsumoto 《Brain & development》2018,40(7):566-569
Background
Coffin-Lowry syndrome is a rare X-linked disease, caused by loss-of-function mutations in the RPS6KA3 gene. Patients exhibit severe intellectual disability with characteristic dysmorphism. As there are no specific laboratory findings to support the diagnosis of Coffin-Lowry syndrome, it may be difficult to diagnose—especially in young children, where the characteristic craniofacial features are less discernible.Case
Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene. On magnetic resonance imaging, his brain exhibited periventricular signal abnormalities with multiple small cystic lesions. These findings may aid in diagnosis of Coffin-Lowry syndrome. 相似文献7.
Takeshi Kouga Mariko Takagi Akihiko Miyauchi Hiroko Shimbo Mizue Iai Sumimasa Yamashita Kei Murayama Matthew B. Klein Guy Miller Tomohide Goto Hitoshi Osaka 《Brain & development》2018,40(2):145-149
Background
Leigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies. EPI-743 is a potent cellular oxidative stress protectant and results of clinical trials for mitochondrial diseases are accumulating.Case
At 5 months, a girl presented with the scarce eye movement and diminished muscle tone. She was diagnosed with Leigh encephalopathy from blood and cerebrospinal fluid lactate elevation and MRI findings. Sequence analysis for mitochondrial DNA revealed a T10158C mutation in the mitochondrial encoded ND3 gene in complex I.Results
At 8 months, succinate was prescribed expected to restore the electron transport chain system. After that her condition got worse and succinate was discontinued. Subsequent administration of EPI-743 improved her eye movement, fine motor movements of the extremities, and bowel movement. She is now 5 years old. Although brain atrophy has progressed, she has still respiratory free time.Conclusion
Our patient showed visible improvement with EPI-743 treatment and the only patient surviving after 4 years. There is a possibility that EPI-743 is modifying the natural course of the syndrome. 相似文献8.
Jiao Xue Ping Qian Hui Li Haipo Yang Xiaoyan Liu Yuehua Zhang Zhixian Yang 《Clinical neurophysiology》2017,128(1):220-226
Objective
To study the atonic elements combined or uncombined with epileptic spasms in infantile spasms.Methods
The demographic data, clinical characteristics, electroencephalogram (EEG), and polyelectromyography (PEMG) features were analyzed in 12 infantile spasm patients with atonic elements.Results
A total of 29 EEGs were recorded. Hypsarrhythmia or hypsarrhythmia variants were identified during interictal EEG. Insular or clustered epileptic spasms occurred in all. Three subtypes of atonic elements combined or uncombined with epileptic spasms (spasm-atonic, pure atonic, and atonic-spasm seizures) were observed electroclinically, which could present insularly or in cluster or altered with epileptic spasms in the same cluster. The ictal EEG showed generalized high-amplitude slow waves presenting alone or combined with other patterns. The corresponding PEMG showed an obvious electrical silence alone or preceding or following a crescendo-decrescendo pattern generated from myoelectric burst.Conclusions
Atonic elements combined or uncombined with epileptic spasms was a newly noticed phenomenon in infantile spasms, which was artificially divided into three subtypes here. It might be a variant of epileptic spasms or a unique seizure type.Significance
Atonic elements combined or uncombined with epileptic spasms was a previously ignored phenomenon in infantile spasms, which should be seriously considered in clinical practice. 相似文献9.
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10.
Daniel Bamborschke Matthias Pergande Kerstin Becker Friederike Koerber Jörg Dötsch Anne Vierzig Lutz T. Weber Sebahattin Cirak 《Brain & development》2018,40(6):480-483
Introduction
Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1.Case report
We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as cerebellar hypoplasia and hyperintensity in the pons. The boy deceased at 6?weeks of age. Via whole exome sequencing, we identified a novel homozygous frameshift mutation c.1233delC (p.Phe411Leufs156) in SGPL1.Conclusion
In our patient, we describe a novel mutation in sphingosine-1-phosphate lyase (SGPL1) leading to severe brain malformation. Neurodevelopmental phenotypes have been reported earlier, but not described in detail. To this end, we present a review on all published SGPL1-mutations and genotype-phenotype correlations focusing on neurodevelopmental outcomes. We hypothesized on the severe neurological phenotypes, which might be due to disruption of neuronal autophagy. Mutations in SGPL1 shall be considered in the differential diagnosis of fetal hydrops as well as congenital brain malformations and neuropathies. 相似文献11.
Karin Kojima Kentaro Shirai Mizuki Kobayashi Akihiko Miyauchi Hirotomo Saitsu Naomichi Matsumoto Hitoshi Osaka Takanori Yamagata 《Brain & development》2018,40(1):69-73
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. 相似文献12.
Introduction
Fukuyama congenital muscular dystrophy (FCMD), caused by fukutin mutations, is the most common form of Japanese CMD. We followed a Japanese CMD sibship without fukutin mutation, and herein identified new FKRP mutations causing MDC1C rarely reported in Oriental countries.Patients
Two affected siblings, individuals 1 (I-1, male) and 2 (I-2, female), were born uneventfully to unaffected, non-consanguineous parents. Severe hypotonia was soon apparent and serum CK levels were elevated: I-1: 1025 IU/L (normal range <130 IU/L) and I-2: 5350 IU/L. I-1 had neither shown head control, nor said any words until he died of pneumonia at the age of 23 months. I-2 learned to sit at 4 years and 10 months and spoke sentences at 6 years and 5 months. She had received respiratory support since 9 years of age and died at 22 years. Both showed a low-density area in the cerebral white matter on CT. MRI of I-2 revealed diffuse hyperintensity in the cerebral white matter on T2-WI, polymicrogyria over the frontal and parietal lobes, and disorganized folia and cysts in the cerebellum.Methods and results
Next generation and Sanger sequencing were performed for I-2. Heterozygous FKRP mutations were identified in exon 4: c.1167_1168delGC, p.Gly391Leufs172 and c.501_502GT>CC, p.Arg167Ser, p.Cys168Arg.Discussion
Recently, fukutin and FKRP were identified as sequentially acting ribitol 5-phosphate transferases involved in the post-translational modification of α-dystroglycan. This may explain the clinical similarities between the two disorders. 相似文献13.
Hiroo Tani Nobutsune Ishikawa Yoshiyuki Kobayashi Shohei Yamaoka Yuji Fujii Kimihiko Kaneko Toshiyuki Takahashi Masao Kobayashi 《Brain & development》2018,40(10):943-946
Background
Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, resulting in developmental regression after normal development during infancy. Transient presentation of many autistic features is also commonly seen in RTT. Anti-myelin oligodendrocyte glycoprotein (MOG)-antibody encephalitis is an acquired relapsing demyelinating syndrome characterized by a variety of neuroinflammatory symptoms. Here, we report a case of anti-MOG antibody encephalitis in a patient with genetically confirmed RTT, which mimicked many of the features of RTT.Case report
A three-year-old girl presented with subacute verbal and motor dysfunction, along with involuntary movements and marked irritability. Magnetic resonance imaging (MRI) revealed extensive white matter lesions, with anti-MOG antibodies detected in the serum and cerebrospinal fluid, resulting in an initial diagnosis of anti-MOG antibody encephalitis. However, additional testing of the MECP2 gene was performed in response to persistent involuntary hand movements in combination with progressive verbal and motor deterioration. Sequencing analysis revealed a known pathogenic mutation in MEPC2, indicating a concurrent diagnosis of RTT.Conclusion
Both RTT and anti-MOG antibody encephalitis are rare conditions. Similarities in disease presentation suggest that anti-MOG antibody encephalitis may mimic many of the symptoms of RTT. 相似文献14.
Mitsuharu Fukazawa Junichiro Tezuka Momoko Sasazuki Natsuko Masumoto Haruhisa Baba Takehiko Doi Yasushi Tsutsumi Yuji Mizuno Futoshi Mihara Hideki Nakayama 《Brain & development》2018,40(2):140-144
Background
Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures.Case presentation
A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10 mg/kg/day pyridoxal phosphate). Eleven days later, frequent apneic episodes occurred, and head magnetic resonance imaging (MRI) showed bilateral reticular formation lesions in the brain stem, including the medulla oblongata. After the pyridoxal phosphate dose was increased (to 40 mg/kg/day), the patient’s seizures and apnea resolved, and her MRI findings also improved. Genetic testing revealed that she was homozygous for the 1559delT mutation of TNSALP.Conclusions
High-dose pyridoxal phosphate is a useful treatment for HPP-induced seizures and might improve reticular formation lesions. 相似文献15.
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
Objective
Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD.Patients and methods
We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing. Furthermore, we studied cell biology with the cultured fibroblasts of 3 AS patients.Results
All patients had a specific homozygous variant (c.6012-12T>A, p.Arg2004Serfs*7) or compound heterozygous variants (c.1711+1G>A; c.6012-12T>A, p.Gly570Aspfs*19;Arg2004Serfs*7) in centrosomal protein 290?kDa (CEP290) gene. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts from AS patients revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm.Conclusion
AS resulted in cilia dysfunction from centrosome disruption. The unique variant of CEP290 could be strongly linked to AS pathology. Here, we provided AS specific genetic evidence, which steers the structure and functions of centrosome that is responsible for normal ciliogenesis. This is the first report that has demonstrated the molecular basis of Arima syndrome. 相似文献16.
Hyun Woo Kim Zhejiu Quan Young-Beom Kim Eunji Cheong Heung Dong Kim Minjung Cho Jiho Jang Young Rang Yoo Joon Soo Lee Ji Hun Kim Yang In Kim Dae-Sung Kim Hoon-Chul Kang 《Brain & development》2018,40(4):287-298
Background
We investigated how two distinct mutations in SCN1A differentially affect electrophysiological properties of the patient-derived GABAergic neurons and clinical severities in two Dravet syndrome (DS) patients.Materials and Methods
We established induced pluripotent stem cells from two DS patients with different mutations in SCN1A and subsequently differentiated them into forebrain GABAergic neurons. Functionality of differentiated GABAergic neurons was examined by electrophysiological recordings.Results
DS-1 patient had a missense mutation, c.4261G?>?T [GenBank: NM_006920.4] and DS-2 patient had a nonsense frameshift mutation, c.3576_3580 del TCAAA [GenBank: NM_006920.4]. Clinically, contrary to our expectations, DS-1 patient had more severe symptoms including frequency of seizure episodes and the extent of intellectual ability penetration than DS-2 patient. Electrophysiologic recordings showed significantly lower sodium current density and reduced action potential frequency at strong current injection (>60?pA) in GABAergic neurons derived from both. Intriguingly, unique genetic alterations of SCN1A differentially impacted electrophysiological impairment of the neurons, and the impairment’s extent corresponded with the symptomatic severity of the donor from which the iPSCs were derived.Conclusion
Our results suggest the possibility that patient-derived iPSCs may provide a reliable in vitro system that reflects clinical severities in individuals with DS. 相似文献17.
18.
Shimpei Baba Tohru Okanishi Mitsuyo Nishimura Sotaro Kanai Shinji Itamura Takayuki Suzuki Yosuke Masuda Hideo Enoki Ayataka Fujimoto 《Brain & development》2018,40(8):719-723
Purpose
Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, for patients without resective epileptogenic cortices, has not been established in DBP. Because CC might be effective against DBP-related epilepsy, we conducted total CC in three pediatric DBP cases.Methods
Case 1. A girl developed epilepsy at 3?months of age, with focal versive seizures and epileptic spasms. The electroencephalogram (EEG) showed a suppression-burst pattern. Total CC was performed at 6?months of age.Case 2. A female infant developed epilepsy on the day of birth, exhibiting epileptic spasms, generalized tonic-clonic seizures, and eye-deviating seizures. She had a history of clusters of tonic seizures. Total CC was performed at 1?year and 2?months of age. After CC, the epileptic focus of the tonic seizures was identified; a secondary resective surgery was conducted.Case 3. A girl developed multiple types of seizures at 3?years of age. Frequent atypical absence status was refractory to antiepileptic drugs. Total CC was conducted at 8?years of age.Results
Case 1: Frequencies of both seizure types decreased. The background EEG changed to continuous high-voltage slow waves.Case 2: Clusters of tonic seizures were well-controlled.Case 3: Atypical absence seizures completely disappeared.Conclusion
CC could be effective for patients with DBP, whose habitual seizures include epileptic spasms and absence seizures. 相似文献19.
Purpose
The treatment options for Lennox–Gastaut syndrome (LGS), a pediatric epileptic syndrome, are limited, especially in younger children. Rufinamide tablets were safe and effective as an add-on treatment in Korean children and adolescents <20?years of age with LGS. This subgroup analysis aimed to evaluate the efficacy and safety of rufinamide tablets in LGS pediatric patients aged 1–4?years.Methods
This was a retrospective, observational study in LGS patients aged 1–4?years who received 12?weeks of treatment with rufinamide orally as an adjuvant treatment between April and June 2010. The proportion of responders (patients with a ≥50% reduction in seizure frequency after rufinamide treatment) was evaluated according to the type of seizure. The proportion of patients who were seizure-free was also evaluated. Adverse events (AEs) were evaluated after 12?weeks of treatment.Results
Among the 15 patients evaluated, one discontinued treatment because of worsening seizures 4?weeks after administration of rufinamide. Seven (46.67%) patients were responders and four patients were seizure-free. There were four responders with convulsive seizures, one each for myoclonic seizures and drop attacks, and spasms. The responder rate was increased to 69.23% by long-term treatment of rufinamide. AEs were experienced by three patients. One patient each experienced somnolence, fatigue, and rash.Conclusion
Rufinamide tablets were efficacious and well tolerated in LGS patients aged 1–4?years, at doses up to 1000?mg per day, when given as add-on therapy to other antiepileptic drugs. 相似文献20.
Yukari Miyakawa Tatsuo Fuchigami Masako Aoki Yusuke Mine Junichi Suzuki Tatsuhiko Urakami Shori Takahashi 《Brain & development》2018,40(7):592-595