Background & Objective: SCN1A gene which encodes for sodium channel alpha 1 subunit has been found to be the most common mutated gene in patients with epilepsy. This study aims to characterize the SCN1A mutations as well as to describe genotype and phenotype association in children with SCN1Arelated infantile-onset epileptic encephalopathies in Malaysia. Methods: Children with infantile-onset epileptic encephalopathy mostly suspected to have Dravet syndrome who had mutational analysis for SCN1A gene from hospitals all over Malaysia were included in the study. Their epilepsy syndrome diagnosis was classified into severe myoclonic epilepsy in infancy and its variants. Polymerase chain reaction and bidirectional sequencing were used to identify SCN1A mutations. Results: A total of 38 children with heterozygous mutations were analysed, 22 (57.9%) of which were novel mutations. Truncated mutations were the most common mutation type (19, 50%). Other mutation types were missense mutations (14, 36.8%), splice site mutations (4, 10.5%) and in-frame deletion (1, 2.6%). The mean age of seizure onset was 4.7 months. Seizure following vaccination was observed in 26.3% of the children. All of them had drug resistant epilepsy. There was no significant association between the type of mutation with the syndromic diagnosis, age of seizure onset, tendency of the seizures to cluster or having status epilepticus, mean age when developmental delay was observed and response to various antiepileptic drugs. Conclusion: This study expands the spectrum of SCN1A mutations and proves the importance of SCN1A gene testing in diagnosing infantile-onset epileptic encephalopathies patients. Although, our study does not support any clinically meaningful genotype-phenotype association for SCN1A-related infantile-onset epileptic encephalopathies, the clinical characteristics of our cohort are similar to those that have been described in previous studies.

Background & Objective: Association between HLA-B*1502 and carbamazepine-induced StevenJohnson syndrome/toxic epidermal necrolysis (CBZ-SJS/TEN) was reported in many Southeast Asian populations but not in Indonesian. The purpose of this study was to evaluate the association between HLA-B*1502 andCBZ-SJS/TEN in an Indonesian population. Methods: Patients with history of CBZ-SJS/TEN are recruited as cases and those who tolerated CBZ as controls. HLA-B typing was performed. Results: We recruited 14 cases with CBZ-SJS/TEN and 53 controls. Positive HLA-B*1502 was found in 8 (57.1%) cases and 14 (26.4%) controls (OR 3.7, 95% CI 1.09-12.61, p=0.035). Conclusion: HLA-B*1502 is associated with CBZ-SJS/TEN patients in Indonesian.

Background & Objective: It is well established that the effectiveness of vagus nerve stimulation (VNS) therapy increases over 2-3 years. When increasing the dose of VNS, some patients were noted to respond even at low-dose stimulation in the first few months. The purpose of this study was to evaluate the relationship between an initial response to VNS and long-term response in a retrospective study of patients with intractable epilepsy. Method: We retrospectively analysed 56 patients who had VNS implantation in our centre. All patients had undergone complete presurgical evaluation. After implantation, the patients were examined at regular intervals of one month for 6-9 months and then followed up regularly for more than 2 years. Their seizure frequency and intensity were documented in their seizure logs. Results: Six patients achieved Engel class I (11%) seizure outcome, 16 achieved Engel class II (28%), and 19 achieved Engel class III (34%). Of the 22 patients with Engel I and II, the 19 in Engel class I (100%) and II (81%) showed an initial response within 6 months, an earlyonset response of VNS implantation. Conclusions: Early-onset response could be an independent predictor for achievement of Engel class I and II in long-term follow-up. Keyword: Background & Objective: It is well established that the effectiveness of vagus nerve stimulation (VNS) therapy increases over 2-3 years. When increasing the dose of VNS, some patients were noted to respond even at low-dose stimulation in the first few months. The purpose of this study was to evaluate the relationship between an initial response to VNS and long-term response in a retrospective study of patients with intractable epilepsy. Method: We retrospectively analysed 56 patients who had VNS implantation in our centre. All patients had undergone complete presurgical evaluation. After implantation, the patients were examined at regular intervals of one month for 6-9 months and then followed up regularly for more than 2 years. Their seizure frequency and intensity were documented in their seizure logs. Results: Six patients achieved Engel class I (11%) seizure outcome, 16 achieved Engel class II (28%), and 19 achieved Engel class III (34%). Of the 22 patients with Engel I and II, the 19 in Engel class I (100%) and II (81%) showed an initial response within 6 months, an earlyonset response of VNS implantation. Conclusions: Early-onset response could be an independent predictor for achievement of Engel class I and II in long-term follow-up. Keyword: Vagus nerve stimulation, long term outcome, early onset response, predictor, epilepsy

Objective: To identify the clinical characteristics of patients with myasthenia gravis (MG) according to age at onset. Methods: We retrospectively recruited 227 non-thymomatous MG patients with adult onset who had been followed up for more than one year. The patients were classified based on the age of symptom onset as “early-onset MG” (EOMG,18–50 years; N=135), “late-onset MG” (LOMG, 50–64 years; N=53), and “very late-onset MG” (VLOMG, 65 years; N=39). Clinical features and serological findings were compared between these groups. Results: LOMG patients showed more frequent ocular MG (55%) and less frequent thymic hyperplasia (9%) compared to EOMG patients (31% and 38%; p=0.006 and p<0.001, respectively), and no female preponderance compared to VLOMG patients (female, 49% vs.77%; p=0.014). However, there were no significant differences between VLOMG and EOMG patients, except for more frequent thymic hyperplasia (p<0.001) in EOMG patients. When analyzing female patients only, less frequent secondary generalization (10%) were additionally found in LOMG patients, compared to EOMG (47%, p= 0.008) and VLOMG (59%, p=0.004) patients. Anti-acetylcholine receptor antibody (HR, 5.48; 95% CI, 1.73–17.37; p=0.004) was independently associated with secondary generalization in female EOMG patients. Conclusion: Our study suggests that LOMG patients, especially female, were characterized by frequent ocular MG and less frequent secondary generalization, distinguished from EOMG and VLOMG patients. Further large epidemiologic studies in Korea are needed to determine the characteristics of MG patients according to the age at onset and gender.

Objective: The aim of this study was to evaluate whether there is an association between Parkinson’s disease (PD) and colorectal cancer in Taiwan. Methods: This was a case-control study using claim data of the Taiwan National Health Insurance Program. There were 64,619 subjects aged 20-84 with newly diagnosed colorectal cancer as cases and 64,619 randomly selected subjects without colorectal cancer as controls from 2005 to 2011. Both cases and controls were matched by sex, age, comorbidities, and index year of diagnosing colorectal cancer. Subjects who were diagnosed with PD within 5 years of diagnosing colorectal cancer were excluded. The multivariable logistic regression model was used to estimate the adjusted odds ratio (OR) and 95% confidence interval (95% CI) for risk of colorectal cancer associated with PD. Results: After adjusting for confounding factors, the multivariable logistic regression analysis revealed that the adjusted OR of colorectal cancer was 0.69 for subjects with PD more than 5 years before index date (95% CI 0.59, 0.81), as compared with subjects without PD. Conclusion: PD is associated with reduced odds of colorectal cancer. Further research is needed to elucidate the mechanisms underlying our findings.

Traditionally, schizophrenia is considered to be a result of dopaminergic hyperactivity while dopaminergic deficiency underlies Parkinson’s disease (PD). This opposing pathophysiology makes comorbid schizophrenia and PD seemingly impossible; however, they do coexist rarely in clinical practice. We present four patients with paranoid schizophrenia diagnosed in their youth who developed parkinsonian symptoms on a stable regimen of quetiapine or clozapine after several years. The diagnosis of comorbid schizophrenia and PD was made mainly according to clinical observation. In addition, dopamine transporter (DAT) imaging with 18F-FP-CIT PET was done in two patients, which showed normal DAT density. It is believed that dopaminergic dysfunction in distinct dopaminergic pathways may explain the coexistence of these two disorders

Word finding difficulty is a known impairments in multiple sclerosis (MS). The purpose of this study is to adapt homophone meaning generation test to Persian language, and then examine word storage and access in multiple sclerosis patients through these three word-finding tests. This study examined the word retrieval in 90 Persian speaking patients with multiple sclerosis and 90 matched healthy controls through three tasks: semantic fluency, phonemic fluency, and homophonic meaning generation. The Persian homophone meaning generation test had a strong convergent validity with semantic and phonemic switching and an adequate divergent validity with semantic and phonemic clustering. There was a significant difference between two groups in all three tests (p<0.001) except semantic and phonetic clustering (p≥ 0.05). Multiple sclerosis is a disease affecting word access, but not the word storage, and Persian homophone meaning generation test is an appropriate, valid, and reliable test to evaluate word-finding difficulties in this population. HMGT

Neonatal stroke leads to cognitive deficits that may include hemispatial neglect. Hemispatial neglect is a syndrome after stroke that patients fail to be aware of stimuli on the side of space and body opposite a brain lesion. We report here a 7-year-old girl who suffered neonatal right brain stroke and underwent right hemispherectomy due to refractory epilepsy. Post-surgical observation of the child’s behavior and tests did not show any signs of hemispatial neglect. We concluded the spatial attention function of the child with neonatal stroke might be transferred to the contralateral side during early childhood.

We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A), a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The 21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but good cognitive functions. Serum creatine kinase was elevated and white matter changes were detected in the brain MRI. Muscle biopsy showed dystrophic changes with complete laminin α2 deficiency by immunohistochemistry. Mutation analysis of LAMA2 showed compound heterozygote at exon 21, c.2888delG(p.Gly963Alafs*111) and exon 34, c.4886dupC(p.Pro1629Profs*40) leading to premature stop codon for each of the frameshift mutations. Patient review at seven years of age showed satisfactory cognitive functions despite having contractures and weakness. Genetic testing of LAMA2 related muscular dystrophy facilitated the earlier diagnosis of MDC1A and genetic counselling for this family. MDC1A

Hereditary spastic paraplegia is a heterogeneous group of genetic neurodegenerative disorders of the nervous system. It is classified into four subtypes based on the mode of inheritance; and among them, most autosomal recessive hereditary spastic paraplegia cases are due to type SPG11 and SPG15 gene mutations. Autosomal recessive hereditary spastic paraplegia cases with SPG30 gene mutation have never been reported in China. Herein, we present our experience with a case of hereditary spastic paraplegia with SPG30 gene mutation in our hospital from North East China. In this patient we detected a missense mutation of c.499 C>T (p.Arg167Cys) in gene KIF1A, a causative gene of type SPG30.