Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

Background And Objective: Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled a clear delineation of diagnostic efficacy and mode of inheritance within multiplex consanguineous families. However, these aspects remain less elucidated within simplex families.

Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.

Introduction: Riboflavin Transporter Deficiency (RTD) is a rare neurological disorder characterized by pontobulbar palsy, hearing loss, and motor cranial nerve involvement. SLC52A3 and SLC52A2 mutations are causes of RTD. SLC52A2 mutations are usually found in childhood onset cases.

Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.

Infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1) is caused by biallelic mutations in the NALCN gene, the major ion channel responsible for the background Na + conduction in neurons. Through whole-exome sequencing (WES), we report three novel homozygous variants in three families, including c.1434 + 1G > A, c.

Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.

Megaconial congenital muscular dystrophy (OMIM: 602,541) related to CHKB gene mutation is a newly defined rare autosomal recessive disorder, with multisystem involvement presenting from the neonatal period to adolescence. Choline kinase beta, lipid transport enzyme, catalyzes the biosynthesis of phosphatidylcholine and phosphatidylethanolamine, two major components of the mitochondrial membrane, on which respiratory enzyme activities are dependent. CHKB gene variants lead to loss-of-function of choline kinase b and lipid metabolism defects and mitochondrial structural changes.

Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare inherited autosomal recessive disease due to bi-allelic mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, accompanied by epilepsy, intractable seizures, and sometimes sensorineural hearing loss. To the best of our knowledge, 47 cases have been reported.

Motor planning is not restricted to only one hemisphere: evidence from ERPs in individuals with hemiplegic cerebral palsy.

The evidence for the hemispheric specialization of motor planning reveals several inconsistencies between the left-lateralized hypothesis and a distributed system across the hemispheres. We compared participants with left hemiplegic cerebral palsy (HCP) to right-handed control subjects in this study's first experiment by inviting them to perform a motor planning task. Participants were required to release the start button, grasp a hexagon, and rotate it according to the instructions.

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Background: Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycolipid and cholesterol trafficking, which could consequently lead to NPC disease with variable phenotypes displaying a broad spectrum of symptoms.

Materials: In the present study 35 Iranian NPC unrelated patients were enrolled.

Epidemiology of Guillain-Barré Syndrome in Iranian Children Aged 0-15 Years (2008-2013).

Objective: Guillain-Barré Syndrome (GBS) is an acute inflammatory polyneuropathy characterized by a rapid progressive symmetric weakness. The GBS is the most common cause of acute flaccid paralysis (AFP) in most parts of the world. This study was carried out to investigate the epidemiological features of GBS in Iranian children.

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Lysosomal storage diseases (LSDs) are known as genetic disorders with an overall prevalence of 1 per 7700 live births. Sphingolipidosis, which is a subgroup of LSDs, is resulted from mutations in the coding genes of specific enzymes of sphingolipid hydrolases. The current study aimed to provide additional knowledge on the genotype of sphingolipidoses disease among Iranian patients affected by the disease.

Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome.

Background: CD59 deficiency is a congenital mutation disorder in complement pathway which can present with various manifestations.

Case Presentation: Herein, we presented an adolescent 16-years-old girl with recurrent attacks of Guillain-Barre in early childhood and then recurrent attacks of angioedema, paresthesia, and myelitis. Finally, she presented with quadriplegia, malar rash, proteinuria, lymphopenia, and high titer of antinuclear antibody.

Prediction of Response to Treatment in Children with Epilepsy.

Objective: This study was conducted to predict the response to treatment in patients treated with anti-epilepsy drugs.

Material And Methods: This analytical questionnaire-based study was conducted in 2014 among 128 patients with epilepsy admitted to Mofid Children's Hospital, Tehran, Iran. The inclusion criteria were children 2 months to 12 yr of age with epilepsy and patients who experienced fever and seizure attacks at least once were excluded from the study.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additional frenula, 4) mesoaxial polydactyly of hands, 5) preaxial polydactyly of feet, 6) syndactyly and/or bifid toe, and 7) hypothalamic hamartoma.

Genetics of intellectual disability in consanguineous families.

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring.

Another Limping Child: An Interesting Diagnosis Journey.

Limp is described as any deviation from a normal gait pattern for the child's age. Limping takes many forms and is one of the most enigmatic complaints in pediatric medicine. It is never normal, and both benign and life-threatening illnesses can present with limp.

Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.

Objective: Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis.

Clinical and Epidemiological Aspects of Multiple Sclerosis in Children.

Objective: Overall, 2%-5% of patients with multiple sclerosis (MS) experienced the first episode of disease before the age 18 years old. Since the age of onset among children is not similar to that in general population, clinicians often fail to early diagnose the disease. This study aimed to determine the epidemiological and clinical patterns of MS among Iranian children.

Knowledge, attitudes, and practices among mothers of children with epilepsy: A study in a teaching hospital.

Objective: Knowledge about epilepsy and attitudes towards patients with epilepsy can affect measures taken to manage epilepsy and seizures. Support and understanding of mothers is invaluable in enabling children with epilepsy to develop normal life skills in living with epilepsy. In order to identify the educational needs of mothers of children with epilepsy, their knowledge, attitudes, and practices should be assessed.

Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.

Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies which is caused by mutation in CAPN3 gene. In the present study, co-segregation of this disorder was analyzed with four short tandem repeat markers linked to the CAPN3 gene. Three apparently unrelated Iranian families with same ethnicity were investigated.

Exploring the Psychometric Properties of the Farsi Version of Quality of Life Kindl Questionnaire for 4-7 Year-Old Children in Iran.

Objective: The aim of this study was to translate and validate the psychometric properties of the Quality of Life Kindl questionnaire.

Materials & Methods: Parents of 4-7 yr-old healthy and ill children referred to Mofid Children Hospital in Tehran in 2013, Iran were sampled randomly in two groups each of which 130 people. After translation, the questionnaie's validity and reliability was evaluated and was confirmed for face and content validity.

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms.

Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities.

Comparative efficacy of zonisamide and pregabalin as an adjunctive therapy in children with refractory epilepsy.

Objective: Approximately one third of epileptic children are resistant to anticonvulsant drugs. This study evaluates the effectiveness, safety, and tolerability of pregabalin as adjunctive therapy in epileptic children relative to Zonisamide.

Materials & Methods: From April 2012 to November 2012,121 children were referred to Mofid Children's Hospital with intractable epilepsy and enrolled in the study.

The ketogenic and atkins diets effect on intractable epilepsy: a comparison.

Objective: Intractable epilepsy is a major difficulty in child neurology, because the numbers of drugs that are available for treatment are limited and new treatments such as diets must be tried. Now there are some diets available for treating patients with intractable epilepsy. The oldest diet is the classic ketogenic diet and one of the newest diets is the modified Atkins diet.