Epileptic patients with de novo STXBP 1 mutations: Key clinical features based on 24 cases
Chloé Di MeglioGaétan LescaNathalie VilleneuveCaroline LacosteAffef AbidiPierre CacciagliCécilia AltuzarraAgathe RoubertieAlexandra AfenjarFlorence Renaldo‐RobinBertrand IsidorAgnès GautierMarie HussonClaude CancèsJulia MétreauCécile LarocheMondher ChouchaneDorothée VilleStéphanie MarignierChristelle RougeotMarine LebrunAnne de Saint MartinAlexandra PerezAudrey RiquetCatherine BadensChantal MissirianNicole PhilipB. ChabrolLaurent VillardMathieu Milh
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Summary Objective Mutations in the syntaxin binding protein 1 gene ( STXBP 1 ) have been associated mostly with early onset epileptic encephalopathies ( EOEE s) and Ohtahara syndrome, with a mutation detection rate of approximately 10%, depending on the criteria of selection of patients. The aim of this study was to retrospectively describe clinical and electroencephalography ( EEG ) features associated with STXBP 1 ‐related epilepsies to orient molecular screening. Methods We screened STXBP 1 in a cohort of 284 patients with epilepsy associated with a developmental delay/intellectual disability and brain magnetic resonance imaging ( MRI ) without any obvious structural abnormality. We reported on patients with a mutation and a microdeletion involving STXBP 1 found using array comparative genomic hybridization ( CGH ). Results We found a mutation of STXBP 1 in 22 patients and included 2 additional patients with a deletion including STXBP 1 . In 22 of them, epilepsy onset was before 3 months of age. EEG at onset was abnormal in all patients, suppression‐burst and multifocal abnormalities being the most common patterns. The rate of patients carrying a mutation ranged from 25% in Ohtahara syndrome to <5% in patients with an epilepsy beginning after 3 months of age. Epilepsy improved over time for most patients, with an evolution to West syndrome in half. Patients had moderate to severe developmental delay with normal head growth. Cerebellar syndrome with ataxic gait and/or tremor was present in 60%. Significance Our data confirm that STXBP 1 mutations are associated with neonatal‐infantile epileptic encephalopathies. The initial key features highlighted in the cohort of early epileptic patients are motor seizures either focal or generalized, abnormal initial interictal EEG , and normal head growth. In addition, we constantly found an ongoing moderate to severe developmental delay with normal head growth. Patients often had ongoing ataxic gait with trembling gestures. Altogether these features should help the clinician to consider STXBP 1 molecular screening.Keywords:
West Syndrome
Abnormality
To investigate the clinical characteristics and prognosis of hematopathy patients with chromosome 3 abnormality.The clinical data of the 125 hematopathy patients with chromosome 3 abnormality in our hospital from January 2011 to June 2018 were retrospectively analyzed. The conventional karyotype analysis was performed by R-banding. According to the main genetic abnormalities, the patients were divided into 3 group: group with 3q abnormality, 3p abnormality and +3/-3.Among 3 kinds of gene abnormality 3q abnormality was the most common one, followed by +3 and 3p abnormality. No significant differences were found in age, sex, WBC, Plt count and Hb level all in each group (P＞0.05). Among the 125 patients, 42 patients died without treatment or abandoned treatment, and 83 patients received more than 2 courses of treatment. The 2-year overall survival (OS) rate in the three groups was 30.25%, 43.0% and 58.7% respectively. The 2-year OS rate in the 3q abnormal group was significantly lower than that in the +3/-3 group (P=0.041). Among the 3q abnormality, the detection rate of the patients with 3q21/3q26 locus abnormality was the highest, and their 2-year OS rate (41.1%) was higher than that in other 3q locus abnormality (11.1%) (P=0.044).Hematopathy patients with chromosome 3 abnormality, especially 3q abnormality often show a poor prognosis, however, 3q abnormality involving 3q21/3q26 locus indicates a better prognosis relatively.125例伴3号染色体异常血液病患者的临床特征及预后.探讨3号染色体异常在血液病患者中的临床特征及其预后的意义.回顾分析2011年1月- 2018年6月来于院就诊的125例伴3号染色体异常的血液病患者的临床资料。采用R显带技术进行常规核型分析, 根据主要遗传学异常将患者分为3组：3q异常、3p异常及+3/-3.3组中以3q异常最常见, 其次为+3和3p异常。各组在年龄、性别、WBC、Plt计数和Hb水平方面无明显差异（P＞0.05）。125例患者中未治疗即死亡或放弃治疗的42例, 治疗2个疗程以上的共83例；3组患者的2年总生存率分别为30.25%、43.0%和58.7%。3q异常组患者的2年总生存率明显低于+3/-3组（P=0.041）。而3q异常中以涉及3q21/3q26位点异常的检出率最高, 其2年的总生存率(41.1%）明显高于其它的3q位点异常（11.1%）（P=0.044）.患者伴有3号染色体异常尤其是3q异常预后较差, 而3q异常中涉及3q21/3q26位点异常的患者预后相对较好.
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てんかん重積状態の2カ月後にWest症候群を発病した1例を経験した。発作問欠時脳波では、てんかん重積状態の約1カ月後に多焦点性の棘波が出現、2カ月後にはヒプスアリスミアを呈するようになり、それとともにepileptic spasmsが出現した。West症候群発病時のMRI (magnetic resonance imaging) では両側前頭葉を中心とした軽度の脳萎縮が出現、発作間欠時SPECT (single photon-emission computed tomography) でも両側前頭葉の血流低下が見られた。発作はビタミンB6投与によって消失した。West症候群発病前の精神運動発達は正常であったが、その後軽度の言語発達遅滞が出現してきている。生後11カ月のてんかん重積状態がWest症候群の発病に寄与した可能性が考えられた。
West Syndrome
North west
Dravet syndrome
American west
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West syndrome is a generalized epilepsy syndrome composed of infantile spasms and onset is usually within the first year of life. Although West syndrome is well known clinical epileptic syndrome, there is no agreement about the first- and second-line treatments. In the last years a great progress in the development of new antiepileptic drugs allow us to have a large choice of treatment options to control the seizures. This review outlines the usefulness of the different antiepileptic drugs for the treatment of West syndrome.
West Syndrome
Epilepsy syndromes
Medical treatment
Generalized epilepsy
Vigabatrin
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Of 300 assorted patients with various congenital abnormalities of the hand, there were 12 with mutiple malformations. It can be concluded that: 1. An accurate diagnosis requires genetic and chromsomal investigations. 2. If there is a slight organic or mental abnormality or damage, the treatment of the hand abnormality is justifiable and should be treated just as an isolated abnormality. 3. If the associated somatic or mental abnormality is severe, the correction of the hand abnormality should be delayed in accordance with the overall status of the child.
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Infantile spasms (IS), formerly known as West syndrome, are a type of seizure associated with the epileptic disorder known as West syndrome. Infants and children are affected by West syndrome. Mental deficits are associated with infantile spasms. A particular kind of seizure that starts in the first year of life is known as infantile spasms. Loss of developmental milestones or developmental regression. However, an electroencephalogram is required to confirm the diagnosis of west syndrome (EEG). We describe the unusual West syndrome case.
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Hypsarrhythmia
Epileptic spasms
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On the basis of the prospective study, concerning 100 children of mothers with epilepsy, observed in the first decade, it was established that epilepsy appeared more often in this period than it was reported in the retrospective studies. The frequency of epilepsy amounted 7%. The pregnant-perinatal negative factors in mothers whose children suffered from epilepsy, weren't essentially larger than in other mothers with epilepsy. The occurrence of epilepsy in mothers till 10 year's of age increases the risk of early appearance of epilepsy in offspring essentially (p < 0.05). The epilepsy with absence seizures in mothers is related to the increased number of children with epilepsy in the first decade significantly more often than the epilepsy only with generalized tonic-clonic seizures (p < 0.012). Among the children with epilepsy, there were cases with the same type as in mothers epilepsy (absence), and with other generalized idiopathic epileptic syndromes (West syndrome, Dose syndrome, epilepsy with tonic-clinic seizures). The course of epilepsy in offspring of mothers with epilepsy was typical for the relevant epileptic syndroms appearing in childhood.
Epilepsy syndromes
Epilepsy in children
Generalized epilepsy
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Generalized epilepsy
Epilepsy in children
Etiology
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Abnormality
Chromosomal Abnormality
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Abnormality
Chromosomal Abnormality
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