癲癇有20%－30%是單基因引起的，華大有這個panel可以篩一下。

從這個結果來看，孩子和母親的基因型是一樣的，但母親沒有發病，不符合經典的遺傳學規律，應該不是致病基因。

解讀報告在于對疾病是否致病的每個解釋要有依據：首先，分析一下這份報告：①GABRA6這個基因在OMIM上的解釋為：Gamma-aminobutyric acid (GABA) receptors are a family of proteins involved in the GABAergic neurotransmission of the mammalian central nervous system. GABRA6 is a member of the GABA-A receptor gene family of heteromeric pentameric ligand-gated ion channels through which GABA, the major inhibitory neurotransmitter in the mammalian brain, acts.(summary by Whiting et al., 1999).也就是說這個基因是γ-氨基丁酸受體家族的成員之一，參與哺乳動物中樞神經系統的神經傳遞。②c.136C>T為錯義突變，判斷是否致病需要按照一定的解讀規則。③p.Arg46Trp，蛋白的功能是否發生改變，這個是要體外、體內試驗或功能軟件預測；或者有文獻依據。④PubMed：21930603的文獻中是這樣描述的：Childhood absence epilepsy (CAE) is a genetic form of epilepsy that typically develops at 4 –8 years of age with brief losses of consciousness and frequent staring spells. Genetic defects or mutations associated with this disorder have been found in specializedmembrane proteins called GABAA receptor channels. GABAA receptors are ligand - gated chloridechannels, and the majority are thought to be composed of α , β and γ or α , β and δ subunitproteins that mediate both rapid, phasic inhibitory ynaptic t r a nsmission and s teady-state, tonicperisynaptic inhibition in the nervous system. Here we showed that a novel GABA A receptor α 6 subunit mutation linked with CAE, R46W, impaired gating and assembly of both αβγ and αβδ GABAA receptors. These findings suggested that the CAE-associated α 6(R46W ) subunit mutation could cause neuronal disinhibition and thus increase susceptibility to generalized seizures through a reduction of αβγ and αβδ receptor function and expression.報告中引用的這篇文獻是講GABRA6基因的c.136C>T突變與Childhood absence epilepsy疾病的關系，這個突變導致神經元去抑制，通過降低αβγ和αβδ 受體的功能和表達來增加癲癇的敏感性。So，這個點的致病性是肯定的。⑤報告中提到的疾病：Idiopathic generalized epilepsy (IGE) 在wiki上的概念是：is a group of epileptic disorders that are believed to have a strong underlying genetic basis. Patients with an IGE subtype are typically otherwise normal and have no structural brain abnormalities. Patients also often have a family history of epilepsy and seem to have a genetically predisposed risk of seizures. IGE tends to manifest itself between early childhood and adolescence although it can be eventually diagnosed later. The genetic cause of some IGE types is known, though inheritance does not always follow a simple monogenic mechanism.這是一組疾病，而且包含了復雜疾病，發病的類型也大不相同，從嬰兒發病到青春期發病都有，而且復雜疾病還要考慮其他基因等綜合因素，而且遺傳方式我目前還沒有查到。終上所述，GABRA6基因的c.136C>T突變在患兒的發病過程中可能起到作用。但是真正發病的原因還要對2個患兒同時進行檢測和分析。

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