Sajida Rasool1, Saba Irshad1*, Neelam Saba1, Mehak Fiaz1, Muhammad Sajid Hussain2, MuhammadWajid Hussain3 and Peter Nürnberg2
...speech, hearing loss and seizures. Genome wide linkage analysis and whole exome sequencing revealed a novel homozygous nonsense mutation (c.204T>G) in BICD2 gene which was predicted to yield a truncated protein product (p. Glu68*). This is first nonsense mutation being reported causing HSP with complex clinical features and early onset. Further, functional exploration will be required for genotype phenotype correlation.
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Ouedraogo Oumar1,2, Tianhoun Denté Fidèle2,4*, Séré Modou3, Kaboré Adama2, Tamboura H. Hamidou2 and Belem Adrien Marie Gaston4
...he inspected cattle. The seizures made were mainly partial seizures of lung organs (70.28%) followed by liver (17.57%), kidneys (8.10%) and heads (4.05%). Following the inspection of all the animals during the study period, the urban commune of Koudougou received a total of 1,029,600 CFA francs in slaughter fees. In addition to the considerable losses in animal protein, the financial losses linked to the seizure of organs af...
Saba Rashid*, Rehan Ashraf, Hafiza Faseeha Iftikhar, Zohaib Bilal Khan, Samreen Sanawar, Aamina Jamil, Misha Salam Bajwa, Manahil Riaz
...s, focal or generalized, seizures (fits), cerebellar and vestibular signs, visual deficits, paresis, paralysis, limb weakness, tremors and myoclonus may be observed. Seizures and myoclonus (chorea) are the two most common signs of neurological involvement.
Keywords | Athetosis, Fasciculations, Ballism, Chorea, Cramp, Myoclonus, Tetanus, Tremor
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Akram Ali Baloch1*, Adeel Ahmad2, Kaleem U. Kakar3, Sara Naudhani1, Samiullah Khan1, Agha Muhammad Raza3, Imrana Niaz Sultan1, Humaira Zahid4, Saadullah3 and Shakeela Daud1*
...ring tendency to produce seizures. A type of epilepsy known as lafora disease is autosomal recessive progressive myoclonus epilepsy (PME) with onset in teenage years of a progressively stubborn seizure disorder which brings declining mental function, dementia and finally death within ten years after the first symptoms. Lafora disease is defective in two well-known genes EPM2A and EPM2B. EPM2B (NHLRC1) consists of one large exon of 1188 bps. It encodes 395 amin...
Zhi Qiang Gao*, Dan Dan Zhang, Qin Gmei Qin, Xiu Xiu Li, Li Li, Yan Zhong Xue and Shifeng Guo
...istics of glioma-related seizures (GRS) was explored. For this purpose, brain tissue samples were collected from 40 patients diagnosed with glioneuronal tumors (GNTs), including 25 cases of gangliogliomas (GGs) and 15 cases of dysembryoplastic neuroepithelial tumors (DNTs). Then, the DNA of GNTs tissues was extracted, and the PSEN1 E280A mutation was detected by sequencing. Finally, the correlation of PSEN1 E280A mutation with clinical characteristics was anal...
Geeta Moolchandani1, Jaiperkash Moolchandani2*, Nasima Iqbal3,
Syed Mohsin Turab4, Muhammad Kashif5 and Lubna Farooq6
...ctors, family history of seizures or neurologic disease, infertility treatment, previous neonatal death, severe preeclampsia, multiple gestation, intrauterine growth restriction, trauma, breech presentation and antepartum hemorrhage. The aim of current study was to identify the associated risk factors which can lead to hypoxic ischemic encephalopathy. A descriptive cross-sectional study was conducted at Paediatrics Ward Unit-II of Civil Hospital, Karachi. All ...
