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  • In Jour Smart Sensing And Intelligent Systems
  • Journal Of Epileptology
  • Acta Neurobiologiae Experimentalis

 

Original Paper | 10-June-2013

Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

genetic diagnosis of epilepsies in which 14 epilepsy – related genes (SCN1A, SCN1B, CHRNA4, CHRNA7, CHRNB2, GABRA1, GABRD, GABRG2, CACNB4, CLCN2, KCNQ2, KCNQ3, CACNA1A, and CACNA1H) have been mounted. Aim. The aim of the present study is to evaluate the performance of our custom array in detecting the SCN1A mutations in patients with severe myoclonic epilepsy in infancy. Material and methods. We compared mutation data generated by DNA array sequencing of DNA samples from patients with severe

Takayuki Sugawara, Shuichi Yoshida, Naoko Onodera, Kazumaru Wada, Shinichi Hirose, Sunao Kaneko

Journal of Epileptology, Volume 21 , ISSUE 1, 5–13

Review | 18-May-2018

A role for the GDAP1 gene in the molecular pathogenesis of Charcot-Marie-Tooth disease

In 2002 a series of mutations in the GDAP1 gene were reported in patients suffering from Charcot-Marie-Tooth disease manifesting as early–onset, progressive distal-muscle wasting and weakness. The molecular etiology of Charcot-Marie-Tooth -GDAP1 disease has been elucidated but its pathogenesis remains unclear, especially given the seemingly contradictory function of the GDAP1 protein. Expression of GDAP1 is observed almost exclusively in neuronal cells, however, the GDAP1 protein is present in

Weronika Rzepnikowska, Andrzej Kochański

Acta Neurobiologiae Experimentalis, Volume 78 , ISSUE 1, 1–13

Review | 18-May-2018

MeCP2 in central nervous system glial cells: current updates

Methyl-CpG binding protein 2 (MeCP2) is an epigenetic regulator, which preferentially binds to methylated CpG dinucleotides in DNA. MeCP2 mutations have been linked to Rett syndrome, a neurodevelopmental disorder characterized by severe intellectual disability in females. Earlier studies indicated that loss of MeCP2 function in neuronal cells was the sole cause of Rett syndrome. Subsequent studies have linked MeCP2 expression in CNS glial cells to Rett syndrome pathogenesis. In this review, we

Kedarlal Sharma, Juhi Singh, Emma E. Frost, Prakash P. Pillai

Acta Neurobiologiae Experimentalis, Volume 78 , ISSUE 1, 30–40

Research Article | 01-September-2017

A MEMORY EFFICIENT HARDWARE BASED PATTERN MATCHING AND PROTEIN ALIGNMENT SCHEMES FOR HIGHLY COMPLEX DATABASES

Protein sequence alignment to find correlation between different species, or genetic mutations etc. is the most computational intensive task when performing protein comparison. To speed-up the alignment, Systolic Arrays (SAs) have been used. In order to avoid the internal-loop problem which reduces the performance, pipeline interleaving strategy has been presented. This strategy is applied to an SA for Smith Waterman (SW) algorithm which is an alignment algorithm to locally align two proteins

M.Anto Bennet, S. Sankaranarayanan, M. Deepika, N. Nanthini, S. Bhuvaneshwari, M. Priyanka

International Journal on Smart Sensing and Intelligent Systems, Volume 10 , ISSUE 5, 101–122

Research paper | 10-October-2018

Effects of PINK1 mutation on synapses and behavior in the brain of Drosophila melanogaster

Mutations in the PINK1 gene are responsible for typical symptoms of Parkinson’s disease. Using Drosophila melanogaster mutant PINK1B9 and after PINK1 silencing with RNAi using transgenic lines, we observed defects in synapses and behavior. The lack or reduced expression of PINK1 prolonged sleep during the day (nap) and decreased the total locomotor activity during 24 h, in addition to a decrease in climbing ability and a reduced lifespan. In the brain, PINK1 mutants had a lower level of

Bartosz Doktór, Milena Damulewicz, Wojciech Krzeptowski, Barbara Bednarczyk, Elżbieta Pyza

Acta Neurobiologiae Experimentalis, Volume 78 , ISSUE 3, 231–241

Case report | 08-August-2017

Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism

were unexplained until at age of 4.5 years RS was diagnosed by finding a heterozygous missense mutation in exon 4 of the MECP2 gene c.455C>T, resulting in a P152R substitution in the methyl-binding domain of the protein. At age of 5 the patient is not able to walk independently and has no expressive speech, she is autistic, has ataxia, limb rigidity, hyperreflexia, lack of purposeful hand movements, verbal and motor stereotypies. Discussion. The presence of two mutations (one characteristic for

Elena Belousova, Vladimir Sukhorukov, Marina Dorofeeva, Lev Shagam, Dmitrii V. Vlodavetz

Journal of Epileptology, Volume 25 , ISSUE 1-2, 47–51

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