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ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review
ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review
ADK deficiency, an extremely rare inherited metabolic disorder affecting methylation, is likely underdiagnosed as a cause ...
Clinical and neuroimaging features in a case of cerebrotendinous xanthomatosis with a  genotype newly identified in morocco: a literature review of African cases
Clinical and neuroimaging features in a case of cerebrotendinous xanthomatosis with a  genotype newly identified in morocco: a literature review of African cases
Cerebrotendinous xanthomatosis (CTX; OMIM 213700) is a rare autosomal recessive neurometabolic disorder caused by pathogen...
A and an inherited missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies
A and an inherited missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies
De novo KCNA3 variants cause a Developmental and Epileptic Encephalopathy (DEE). We describe a 14-year-old boy presenting ...
Identification of an additional deep intronic splice variant prompts critical evaluation of inheritance
Identification of an additional deep intronic splice variant prompts critical evaluation of inheritance
SPG7-related hereditary spastic paraplegia (SPG7-HSP) is one of the most common forms of autosomal recessive HSP. There is...
A novel heterozygous mutation of gene causes neurodevelopmental disorder and middle type hypospadias in a Chinese boy with 5 years follow-up
A novel heterozygous mutation of gene causes neurodevelopmental disorder and middle type hypospadias in a Chinese boy with 5 years follow-up
As a crucial transcription factor, BCL11 transcription factor B gene (BCL11B) is expressed in the cell nucleus, and also w...
Probable cerebral amyloid angiopathy - related inflammation in a 32-year-old woman with down syndrome
Probable cerebral amyloid angiopathy - related inflammation in a 32-year-old woman with down syndrome
Inflammatory cerebral amyloid angiopathy (CAA-RI) is a variant of CAA, rarely seen in young individuals with Down syndrome...
A novel homozygous in-frame deletion variant in causing Galloway-Mowat syndrome 5
A novel homozygous in-frame deletion variant in causing Galloway-Mowat syndrome 5
Biallelic variants in TPRKB (TP53RK-binding protein) are known to cause Galloway–Mowat syndrome 5 (MIM#617731). It i...
Gene therapy for huntington’s disease: advances, challenges, and future perspectives
Gene therapy for huntington’s disease: advances, challenges, and future perspectives
An abnormal amplification of the CAG trinucleotide repeat in the huntingtin (HTT) gene causes Huntington’s disease (...
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15
Hypomyelinating leukodystrophy 15 (HLD15) results from biallelic pathogenic variants in EPRS1, but exonic deletions have n...
-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion
-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion
Heterozygous EIF2AK2 variants reportedly cause leukoencephalopathy, developmental delay, and episodic neurologic regressio...
Association of TRPM7 gene mutation with familial vestibular migraine
Association of TRPM7 gene mutation with familial vestibular migraine
Vestibular migraine (VM) is a common neurological disorder characterized by headache and vestibular symptoms, with its gen...
Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F
Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4F (CMT4F) is a rare hereditary sensorimotor neuropathy, linked to the periaxin (PRX) gen...
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Biallelic hypomorphic variants in PRORP cause the rare autosomal recessive disorder combined oxidative phosphorylation def...
Targeting ABC transporters in glioma: farnesiferols as potent agents against chemotherapy resistance
Targeting ABC transporters in glioma: farnesiferols as potent agents against chemotherapy resistance
Gliomas are the most prevalent primary brain tumors in the central nervous system. ABC transporters have been identified a...
Aberrant RNA splicing caused by variant in identified in a patient with pharmacoresistant epilepsy
Aberrant RNA splicing caused by variant in identified in a patient with pharmacoresistant epilepsy
Familial focal epilepsy with variable foci-1 (FFEVF1) is an autosomal dominant form of epilepsy. The phenotypic spectrum o...
-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature
-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature
The OTUD5 gene (OMIM #300713), located on Xp11.23, encodes the ovarian tumor deubiquitinase 5, a deubiquitinase enzyme wit...
Thorough evaluation of a novel splice variant in a female patient with -related intellectual disability
Thorough evaluation of a novel splice variant in a female patient with -related intellectual disability
Mediator complex subunit 12 (MED12) functions as a member of a multiprotein complex to regulate the fundamental process of...
Associated Neurodegeneration (PLAN): similar variant, divergent phenotype
Associated Neurodegeneration (PLAN): similar variant, divergent phenotype
PLA2G6-associated neurodegeneration (PLAN) is a rare autosomal recessive disorder with broad clinical spectrum, encompassi...
Expanding mutational and phenotypic spectrum of -related leukoencephalopathy: a novel family and literature review
Expanding mutational and phenotypic spectrum of -related leukoencephalopathy: a novel family and literature review
CST3-related leukoencephalopathy is a recently recognized adult-onset neurodegenerative disorder caused by pathogenic CST3...
Inhibition of phosphatase and tensin homolog induces chemical long-term potentiation in the dentate gyrus of hippocampus
Inhibition of phosphatase and tensin homolog induces chemical long-term potentiation in the dentate gyrus of hippocampus
Phosphatase and Tensin Homolog (PTEN) is a tumor suppressor gene that regulates cell growth, proliferation, and survival. ...
A recurrent c.953A>C (p. Gln318Pro) variant in causing congenital disorder of glycosylation in Turkish population
A recurrent c.953A>C (p. Gln318Pro) variant in causing congenital disorder of glycosylation in Turkish population
Congenital disorders of glycosylation type 1p, one of the N-glycosylation defects, Asparagine-dependent glycosylation 11 (...
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis
Joubert syndrome (JS) is a rare autosomal recessive genetic disease characterized by molar tooth sign, hypotonia during in...
Zebrafish as a tool for autism research: unraveling the roles of , and in synaptic and behavioral abnormalities
Zebrafish as a tool for autism research: unraveling the roles of , and in synaptic and behavioral abnormalities
Autism Spectrum Disorder, a complex neurodevelopmental disorder, is manifested by deficits in social communication and res...
Phenotypic variability and preserved cognition in a family with related developmental epileptic encephalopathy
Phenotypic variability and preserved cognition in a family with related developmental epileptic encephalopathy
Developmental and epileptic encephalopathy type 32 (DEE32) is a severe neurological disorder caused by pathogenic variants...
Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters
Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters
The rare recessive autosomal non-communicable disorder oculocutaneous albinism causes discoloration of the eye, hair, and ...
Identification of a de Novo gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay
Identification of a de Novo gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay
Autism spectrum disorder (ASD) is a neurodevelopmental condition that is frequently accompanied by developmental delay and...
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative diseases that include more than 90 ge...
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2
RASopathies are a wide group of multisystemic disorders caused by pathogenic variants in genes belonging to the RAS/MAPK p...
Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile)
Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile)
Moyamoya disease is a rare cerebrovascular disorder characterized by progressive internal carotid artery stenosis and comp...
Pro-inflammatory cytokine genetic variants show variable susceptibility to mild cognitive impairment, alzheimer’s disease and frontotemporal dementia in South India
Pro-inflammatory cytokine genetic variants show variable susceptibility to mild cognitive impairment, alzheimer’s disease and frontotemporal dementia in South India
Dementia is a general term for loss of memory, ling and other thinking abilities that are severe enough to interfere with ...
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