Department of Paediatric and Child Health, Aga Khan University, Karachi, Pakistan.
4th Year MBBS Student, Aga Khan University, Karachi, Pakistan.
J Pak Med Assoc. 2023 Aug;73(8):1720-1722. doi: 10.47391/JPMA.6759.
Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and dysmorphic features. We report the case of a five-month old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left lower sternal border and loud P2. The seizures were refractory to most anti-epileptic drugs but showed some response to Valproic acid. This case demonstrated that EIMFS is a grave infantile epileptic encephalopathy which is refractory to anti epileptic drugs and can present with a wide spectrum of neurogenic and cardiogenic symptoms.
钾通道亚家族 T 成员 1（KCNT1）基因突变导致常染色体显性遗传病，其特征为继发全身性发作/移行性局灶性发作、发绀和发育异常。我们报告了一例 5 月龄男性，存在 KCNT1 病理性变异，表现为局灶性肌阵挛发作、蒙古斑和左胸骨下二级收缩期杂音及响亮的 P2。该患者的癫痫发作对大多数抗癫痫药物均无反应，但对丙戊酸钠有一定反应。本病例表明，EIMFS 是一种严重的婴儿癫痫性脑病，对抗癫痫药物有抗药性，可表现出广泛的神经源性和心源性症状。
