Name：NTCC? NA23710 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA23710
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 10 YR
Gender性別: Female
Description描述: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 | CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5 | MITOCHONDRIAL COMPLEX IV DEFICIENCY
Remarks: Clinically affected; symptom onset at 3 months of age; diagnosed by geneticist at 10 years old; examination at 10 months old revealed delayed development, hypotonia, left eye strabismus, no eye contact or tracking of objects, poor cortical vision, two lower incisors with black spots, difficulty swallowing, acidotic state with Kussmaul breathing, dry skin, daily seizures; muscle biopsy at 10 months old revealed 50% decrease in cytochrome-c oxidase (deficient); examination at age 10 years old revealed the following: mild dysmorphic features, scoliosis, high arched abnormal feet, increased tone at ankles, daily seizures (convulsive and myoclonic), non-verbal; cannot walk, sit, crawl, stand, cry, or laugh; gastric tube feeding; constipation; gas; bloating; precocious puberty; tanner stage 1 breasts and tanner stage 2-3 pubic hair with no axillary hair; severe spastic quadriplegia; kidney stone and UTI; hypertension with thickening of septal wall; MLPA of genomic DNA revealed subject is heterozygous for a partial deletion that includes exons 17 and 18 of the CDKL5 gene; FOXG1 sequencing was negative (exons 1-2); no detectable deletions or duplications of MECP2 were identified; normal female microarray result; allergies include latex, soy and adhesives; treatments include physical, occupational, speech, feeding, and vision therapy and utilizes a developmental teacher; ketogenic diet; assistive devices include wheelchair, braces, and orthotics; surgeries include gastric tube, nissen fundoplication, and vagal nerve stimulator; medications include Lupron, Lamictal, Risperidone, Levetiracetam, Clonazepam, Zinc Sulfate, Diazepam, Miralax, Clonidine, Cytra K Crystals, Zantac, Carnitor, Magnesium, Cholecalciferol, Zyrtec, Culturelle, Melatonin.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: CDKL5
Disease疾病類型:
Mutations突變: DEL EX 17-18
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net