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Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report

หน่วยงาน Universiti Sains Malaysia, Malaysia

รายละเอียด

ชื่อเรื่อง : Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report
นักวิจัย : Ba, Zilfalil , Ms, Watihayati , My, Rozainah , R, Sutomo , H, Nishio , M, Matsuo , Hussin, Zabidi
คำค้น : R735-854 Medical education. Medical schools. Research
หน่วยงาน : Universiti Sains Malaysia, Malaysia
ผู้ร่วมงาน : -
ปีพิมพ์ : 2546
อ้างอิง : http://eprints.usm.my/11591/1/Genetically_Confirmed_Spinal_Muscular_Atrophy_Type_3_(PPSPergigian).pdf , Ba, Zilfalil and Ms, Watihayati and My, Rozainah and R, Sutomo and H, Nishio and M, Matsuo and Hussin, Zabidi (2003) Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report. Neurol J Southeast Asia. pp. 113-115.
ที่มา : -
ความเชี่ยวชาญ : -
ความสัมพันธ์ : http://eprints.usm.my/11591/
ขอบเขตของเนื้อหา : -
บทคัดย่อ/คำอธิบาย :

Spinal Muscular Atrophy (SMA) is an autosomal recessive disease affecting the anterior horn cells of the spinal cord. The diagnosis is usually based on the clinical presentation with or without muscle biopsy and the molecular detection of mutation in the SMNI gene. There have been a few reported cases of SMA with central nervous system involvement, but these were without genetic diagnoses. We report a Malay girl with genetically confirmed SMA complicated by epilepsy. She first presented with motor weakness at the age of 17 months and recurrent seizures a month later. The molecular genetic analysis of her SMN gene showed homozygous deletion of exon 7 and 8 of the SMN1 gene. The seizure responded well to carbamazepine. To the best of our knowledge, this is the first case of genetically comfirmed Malay SMA patient with an association with epilepsy.

บรรณานุกรม :
Ba, Zilfalil , Ms, Watihayati , My, Rozainah , R, Sutomo , H, Nishio , M, Matsuo , Hussin, Zabidi . (2546). Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report.
    กรุงเทพมหานคร : Universiti Sains Malaysia, Malaysia.
Ba, Zilfalil , Ms, Watihayati , My, Rozainah , R, Sutomo , H, Nishio , M, Matsuo , Hussin, Zabidi . 2546. "Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report".
    กรุงเทพมหานคร : Universiti Sains Malaysia, Malaysia.
Ba, Zilfalil , Ms, Watihayati , My, Rozainah , R, Sutomo , H, Nishio , M, Matsuo , Hussin, Zabidi . "Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report."
    กรุงเทพมหานคร : Universiti Sains Malaysia, Malaysia, 2546. Print.
Ba, Zilfalil , Ms, Watihayati , My, Rozainah , R, Sutomo , H, Nishio , M, Matsuo , Hussin, Zabidi . Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report. กรุงเทพมหานคร : Universiti Sains Malaysia, Malaysia; 2546.