【佳学基因检测】GABRA1疾病风险评估的作用

基因检测的序列名称：

GABRA1

人体基因序列变化与疾病表征数据库中的基因代码：

2554

人体基因序列数据库中国际交流名称全称

gamma-aminobutyric acid type A receptor alpha1 subunit

中国数据库中基因全称：

γ-氨基丁酸A型受体alpha1亚基

基因检测报告英文版基因简介

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

基因突变所影响的基因信息

该基因编码γ-氨基丁酸（GABA）受体。GABA是哺乳动物大脑中主要的抑制性神经递质，在GABA-A受体上起作用，该受体是配体门控的氯离子通道。这些通道的氯化物电导率可以通过与GABA-A受体结合的试剂（例如苯二氮杂）来调节。GABA-A受体是五聚体，由几种亚基的蛋白质组成：α，β，γ，δ和rho。该基因的突变会引起青少年肌阵挛性癫痫和儿童期癫痫型4型。已为该基因鉴定出了编码同一蛋白的多种转录物变体。[由RefSeq提供，2008年7月]

国际国内该碱基基因序列的其他英语文字母简称：

ECA4, EIEE19, EJM, EJM5

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第5号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：161274197；结束位置坐标为：161326965。该基因序列在GRCh38版本中的起始位置坐标为：161847191；结束位置坐标为：161899959。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Transporters/Transporter channels and pores

基因解码对该基因的功能分类：中文版

转运体/转运体通道和孔

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

该基因序列变化后增加的疾病风险（国际版）：

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; Essential Tremor; Hemiclonic seizures; EPILEPSY, CHILDHOOD ABSENCE, 1; Obtundation status; Infantile Severe Myoclonic Epilepsy; Focal Clonic Seizures; Myoclonic Epilepsy, Juvenile; Epileptic drop attack; Hypotonic seizures; Febrile Convulsions; Ataxia; Hepatic Encephalopathy; Absence Epilepsy; Epileptic encephalopathy; Alcoholic Intoxication; Generalized myoclonic seizures; Epilepsies, Myoclonic; Ovarian Cysts; Alcohol abuse; AMYOTROPHIC LATERAL SCLEROSIS 1; Myoclonic Epilepsies, Progressive; Abnormal behavior; Photosensitivity of skin; Status Epilepticus; Electroencephalogram abnormal; Tremor; Mood Disorders; Cerebellar Ataxia; Autistic Disorder; Alcoholic Intoxication, Chronic; Bipolar Disorder; Muscle hypotonia; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia

如果该基因突变后，风险可能增加的疾病类型（中文版）：

癫痫特发性全身性易感性12型；癫痫性脑病早期婴儿19 型；特发性震颤；半阵挛发作；癫痫儿童缺失2型；迟钝状态；婴儿严重肌阵挛性癫痫；局灶性阵挛发作；肌阵挛性癫痫青少年；癫痫发作；低渗性癫痫发作；热性惊厥；共济失调；肝性脑病;失神性癫痫；癫痫性脑病；酒精中毒；全身性肌阵挛发作；癫痫、肌阵挛；卵巢囊肿;滥用酒精;肌萎缩侧索硬化 2型；肌阵挛性癫痫进行性；异常行为;皮肤光敏性；癫痫持续状态；脑电图异常；震颤;情绪障碍；小脑性共济失调；自闭症；酒精中毒慢性；躁郁症;肌肉张力减退；认知延迟；整体发育迟缓；智力和运动迟缓；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾;精神分裂症

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

以该基因做靶点的药物（国际版）：

Lorazepam (Inhibitory extracellular ligand-gated ion channel activity);Ethchlorvynol (Inhibitory extracellular ligand-gated ion channel activity);Enflurane (Inhibitory extracellular ligand-gated ion channel activity);Temazepam (Inhibitory extracellular ligand-gated ion channel activity);Temazepam (Inhibitory extracellular ligand-gated ion channel activity);Butabarbital (Inhibitory extracellular ligand-gated ion channel activity);Butalbital (Inhibitory extracellular ligand-gated ion channel activity);Butalbital (Inhibitory extracellular ligand-gated ion channel activity);Topiramate (Inhibitory extracellular ligand-gated ion channel activity);Topiramate (Inhibitory extracellular ligand-gated ion channel activity);Etomidate (Inhibitory extracellular ligand-gated ion channel activity);Etomidate (Inhibitory extracellular ligand-gated ion channel activity);Talbutal (Inhibitory extracellular ligand-gated ion channel activity);Talbutal (Inhibitory extracellular ligand-gated ion channel activity);Pentobarbital (Inhibitory extracellular ligand-gated ion channel activity);Pentobarbital (Inhibitory extracellular ligand-gated ion channel activity);Olanzapine (Inhibitory extracellular ligand-gated ion channel activity);Clobazam (Inhibitory extracellular ligand-gated ion channel activity);Meprobamate (Inhibitory extracellular ligand-gated ion channel activity);Meprobamate (Inhibitory extracellular ligand-gated ion channel activity);Eszopiclone (Inhibitory extracellular ligand-gated ion channel activity);Eszopiclone (Inhibitory extracellular ligand-gated ion channel activity);Alprazolam (Inhibitory extracellular ligand-gated ion channel activity);Secobarbital (Inhibitory extracellular ligand-gated ion channel activity);Zolpidem (Inhibitory extracellular ligand-gated ion channel activity);Metharbital (Inhibitory extracellular ligand-gated ion channel activity);Metharbital (Inhibitory extracellular ligand-gated ion channel activity);Picrotoxin (Inhibitory extracellular ligand-gated ion channel activity);Methohexital (Inhibitory extracellular ligand-gated ion channel activity);Chlordiazepoxide (Inhibitory extracellular ligand-gated ion channel activity);Amoxapine (Inhibitory extracellular ligand-gated ion channel activity);Amoxapine (Inhibitory extracellular ligand-gated ion channel activity);Adinazolam (Inhibitory extracellular ligand-gated ion channel activity);Thiopental (Inhibitory extracellular ligand-gated ion channel activity);Clorazepate (Inhibitory extracellular ligand-gated ion channel activity);Acamprosate (Inhibitory extracellular ligand-gated ion channel activity);Midazolam (Inhibitory extracellular ligand-gated ion channel activity);Flurazepam (Inhibitory extracellular ligand-gated ion channel activity);Isoflurane (Inhibitory extracellular ligand-gated ion channel activity);Isoflurane (Inhibitory extracellular ligand-gated ion channel activity);Primidone (Inhibitory extracellular ligand-gated ion channel activity);Primidone (Inhibitory extracellular ligand-gated ion channel activity);Halazepam (Inhibitory extracellular ligand-gated ion channel activity);Halazepam (Inhibitory extracellular ligand-gated ion channel activity);Propofol (Inhibitory extracellular ligand-gated ion channel activity);Diazepam (Inhibitory extracellular ligand-gated ion channel activity);Diazepam (Inhibitory extracellular ligand-gated ion channel activity);Progabide (Inhibitory extracellular ligand-gated ion channel activity);Oxazepam (Inhibitory extracellular ligand-gated ion channel activity);Oxazepam (Inhibitory extracellular ligand-gated ion channel activity);Methylphenobarbital (Inhibitory extracellular ligand-gated ion channel activity);Triazolam (Inhibitory extracellular ligand-gated ion channel activity);Triazolam (Inhibitory extracellular ligand-gated ion channel activity);Ethanol (Inhibitory extracellular ligand-gated ion channel activity);Zaleplon (Inhibitory extracellular ligand-gated ion channel activity);Methoxyflurane (Inhibitory extracellular ligand-gated ion channel activity);Methoxyflurane (Inhibitory extracellular ligand-gated ion channel activity);Ergoloid mesylate (Inhibitory extracellular ligand-gated ion channel activity);Clonazepam (Inhibitory extracellular ligand-gated ion channel activity);Methyprylon (Inhibitory extracellular ligand-gated ion channel activity);Methyprylon (Inhibitory extracellular ligand-gated ion channel activity);Thiamylal (Inhibitory extracellular ligand-gated ion channel activity);Halothane (Inhibitory extracellular ligand-gated ion channel activity);Halothane (Inhibitory extracellular ligand-gated ion channel activity);Phenobarbital (Inhibitory extracellular ligand-gated ion channel activity);Desflurane (Inhibitory extracellular ligand-gated ion channel activity);Zopiclone (Inhibitory extracellular ligand-gated ion channel activity);Flumazenil (Inhibitory extracellular ligand-gated ion channel activity);Flumazenil (Inhibitory extracellular ligand-gated ion channel activity);Estazolam (Inhibitory extracellular ligand-gated ion channel activity);Estazolam (Inhibitory extracellular ligand-gated ion channel activity);Sevoflurane (Inhibitory extracellular ligand-gated ion channel activity);Sevoflurane (Inhibitory extracellular ligand-gated ion channel activity);Dihydroquinidine barbiturate (Inhibitory extracellular ligand-gated ion channel activity);Quinidine barbiturate (Inhibitory extracellular ligand-gated ion channel activity);Amobarbital (Inhibitory extracellular ligand-gated ion channel activity);Aprobarbital (Inhibitory extracellular ligand-gated ion channel activity);Butethal (Inhibitory extracellular ligand-gated ion channel activity);Heptabarbital (Inhibitory extracellular ligand-gated ion channel activity);Hexobarbital (Inhibitory extracellular ligand-gated ion channel activity);Ginkgo biloba (Inhibitory extracellular ligand-gated ion channel activity);Glutethimide (Inhibitory extracellular ligand-gated ion channel activity);Glutethimide (Inhibitory extracellular ligand-gated ion channel activity);Barbital (Inhibitory extracellular ligand-gated ion channel activity);Barbituric acid derivative (Inhibitory extracellular ligand-gated ion channel activity);Bromazepam (Inhibitory extracellular ligand-gated ion channel activity);Clotiazepam (Inhibitory extracellular ligand-gated ion channel activity);Fludiazepam (Inhibitory extracellular ligand-gated ion channel activity);Ketazolam (Inhibitory extracellular ligand-gated ion channel activity);Prazepam (Inhibitory extracellular ligand-gated ion channel activity);Prazepam (Inhibitory extracellular ligand-gated ion channel activity);Quazepam (Inhibitory extracellular ligand-gated ion channel activity);Quazepam (Inhibitory extracellular ligand-gated ion channel activity);Cinolazepam (Inhibitory extracellular ligand-gated ion channel activity);Nitrazepam (Inhibitory extracellular ligand-gated ion channel activity);Prasterone (Inhibitory extracellular ligand-gated ion channel activity);Ganaxolone (Inhibitory extracellular ligand-gated ion channel activity);Thiocolchicoside (Inhibitory extracellular ligand-gated ion channel activity)

针对该基因所产生的突变，可能有正确效果的药物（中文版）：

劳拉西泮（抑制细胞外配体门控离子通道活性）；乙氯维诺（抑制细胞外配体门控离子通道活性）；恩氟烷（抑制细胞外配体门控离子通道活性）；替马西泮（抑制细胞外配体门控离子通道活性）；替马西泮（ Inhibitory extracellular ligand-gated ion channel activity);Butabarbital(抑制胞外配体门控离子通道活性);Butalbital(抑制胞外配体门控离子通道活性);Butalbital(抑制胞外配体门控离子通道活性);托吡酯(抑制胞外配体门离子通道活性)配体门控离子通道活性）；托吡酯（抑制性细胞外配体门控离子通道活性）；依托咪酯（抑制性细胞外配体门控离子通道活性）；依托咪酯（抑制性细胞外配体门控离子通道活性）；他布妥（抑制性细胞外配体-门控离子通道活性）门离子通道活性);他布妥(抑制细胞外配体门离子通道活性);戊巴比妥(抑制细胞外配体门离子通道活性);戊巴比妥(抑制细胞外配体门离子通道活性);奥氮平(抑制细胞外配体门离子通道活性)通道活性）；氯巴占（抑制细胞外配体门控离子通道活性）；甲丙氨酯（抑制细胞外配体门控离子通道活性）；甲丙氨酯（抑制细胞外配体门控离子通道活性）；依佐匹克隆（抑制细胞外配体门控离子通道活性)；右佐匹克隆（抑制细胞外配体门控离子通道活性）；阿普唑仑（抑制细胞外配体门控离子通道活性）；司可巴比妥（抑制细胞外配体门控离子通道活性）；唑吡坦（抑制细胞外配体门控离子通道活性）； Metharbital（抑制细胞外配体门控离子通道活性）；Metharbital（抑制细胞外配体门控离子通道活性）；Picrotoxin（抑制细胞外配体门控离子通道活性）；Methohexital（抑制细胞外配体门控离子通道活性）；氯氮卓（ Inhibitory extracellular ligand-gated ion channel activity);Amoxapine（抑制细胞外配体门控离子通道活性）;Amoxapine（抑制细胞外配体门控离子通道活性）;Adinazolam（抑制细胞外配体门控离子通道活性）;Thioopental（抑制细胞外配体门控离子通道活性）配体门控离子通道活性）；氯拉西泮（抑制细胞外配体门控离子通道活性）；阿坎酸（抑制细胞外配体门控离子通道活性）；咪达唑仑（抑制细胞外配体门控离子通道活性）；氟拉西泮（抑制细胞外配体-门控离子通道活性） gated ion channel activity);Isoflurane (Inhibitory extracellular ligand-gated ion channel activity);Isoflurane (Inhibitory extracellular ligand-gated ion channel activity);扑米酮(Inhibitory extracellular ligand-gated ion channel activity);扑米酮(Inhibitory extracellular ligand-gated ion activity)通道活性);哈拉西泮(抑制细胞外配体门控离子通道活性);哈拉西泮(抑制细胞外配体门控离子通道活性);异丙酚(抑制细胞外配体门控离子通道活性);地西泮(抑制细胞外配体门控离子通道活性)；地西泮（抑制细胞外配体门控离子通道活性）；Progabide（抑制细胞外配体门控离子通道活性）；奥沙西泮（抑制细胞外配体门控离子通道活性）；奥沙西泮（抑制细胞外配体门控离子通道活性）；甲基苯巴比妥（抑制细胞外配体门控离子通道活性）;三唑仑（抑制细胞外配体门控离子通道活性）;三唑仑（抑制细胞外配体门控离子通道活性）;乙醇（抑制细胞外配体门控离子通道活性）;扎来普隆（ Inhibitory extracellular ligand-gated ion channel activity);Methoxyflurane（抑制细胞外配体门控离子通道活性）;Methoxyflurane（抑制细胞外配体门控离子通道活性）;Ergoloid mesylate（抑制细胞外配体门控离子通道活性）;Clonazepam（抑制细胞外配体门控离子通道活性）；Methyprylon（抑制性细胞外配体门控离子通道活性）；Methyprylon（抑制性细胞外配体门控离子通道活性）；Thiamylal（抑制性细胞外配体门控离子通道活性）；Halothane（抑制性细胞外配体-门控离子通道活性）；氟烷（抑制性细胞外配体门控离子通道活性）；苯巴比妥（抑制性细胞外配体门控离子通道活性）；地氟烷（抑制性细胞外配体门控离子通道活性）；佐匹克隆（抑制性细胞外配体门控离子通道活性）离子通道活性）;氟马西尼（抑制细胞外配体门控离子通道活性）;氟马西尼（抑制细胞外配体门控离子通道活性）;艾司唑仑（抑制细胞外配体门控离子通道活性）;艾司唑仑（抑制细胞外配体门控离子通道活性);七氟醚(抑制细胞外配体门控离子通道活性);七氟醚(抑制细胞外配体门控离子通道活性);二氢奎尼丁巴比妥酸盐(抑制细胞外配体门控离子通道活性);奎尼丁巴比妥酸盐(抑制细胞外配体门控离子通道Aprobarbital（抑制细胞外配体门控离子通道活性）；Aprobarbital（抑制细胞外配体门控离子通道活性）；Butethal（抑制细胞外配体门控离子通道活性）；Heptabarbital（抑制细胞外配体门控离子通道活性） ;己巴比妥（抑制细胞外配体门控离子通道活性）；银杏叶（抑制细胞外配体门控离子通道活性）；谷氨酰胺（抑制细胞外配体门控离子通道活性）；谷氨酰胺（抑制细胞外配体门控离子通道活性）；巴比妥（抑制细胞外配体门控离子通道活性）；巴比妥酸衍生物（抑制细胞外配体门控离子通道活性）；溴西泮（抑制细胞外配体门控离子通道活性）；克洛硫西泮（抑制细胞外配体门控离子通道活性）；氟地西泮（抑制细胞外配体门控离子通道活性）；酮唑仑（抑制细胞外配体门控离子通道活性）；普拉西泮（抑制细胞外配体门控离子通道活性）；普拉西泮（抑制细胞外配体门控离子通道活性）；喹西泮（抑制细胞外配体门控离子通道活性）；Quazepam（抑制细胞外配体门控离子通道活性）；Cinolazepam（抑制细胞外配体门控离子通道活性）；Nitrazepam（抑制细胞外配体门控离子通道活性）；Prasterone（抑制细胞外配体门控离子通道活性）配体门控离子通道活性）；加奈索酮（抑制细胞外配体门控离子通道活性）；硫秋水仙苷（抑制细胞外配体门控离子通道活性）