scholarly journals Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4

Children ◽  
2020 ◽  
Vol 7 (9) ◽  
pp. 144
Author(s):  
Ji Yoon Han ◽  
Hyun Joo Lee ◽  
Young-Mock Lee ◽  
Joonhong Park
Keyword(s):  
Febrile Seizure ◽  
Febrile Illness ◽  
Causative Mutation ◽  
Population Database ◽  
Gene Filtering ◽  
The Family ◽  
Disease Penetrance ◽  
Autosomal Dominance ◽  
Codon Change ◽  
Genetic Epilepsies

Febrile seizure (FS) is related to a febrile illness (temperature > 38 °C) not caused by an infection of central nervous system, without neurologic deficits in children aged 6–60 months. The family study implied a polygenic model in the families of proband(s) with single FS, however in families with repeated FS, inheritance was matched to autosomal dominance with reduced disease penetrance. A 20 month-old girl showed recurrent FS and afebrile seizures without developmental delay or intellectual disability. The seizures disappeared after 60 months without anti-seizure medication. The 35 year-old proband’s mother also experienced five episodes of simple FS and two episodes of unprovoked seizures before 5 years old. Targeted exome sequencing was conducted along with epilepsy/seizure-associated gene-filtering to identify the candidate causative mutation. As a result, a heterozygous c.2039A>G of the ADGRV1 gene leading to a codon change of aspartic acid to glycine at the position 680 (rs547076322) was identified. This protein’s glycine residue is highly conserved, and its allele frequency is 0.00002827 in the gnomAD population database. ADGRV1 mutation may have an influential role in the occurrence of genetic epilepsies, especially those with febrile and afebrile seizures. Further investigation of ADGRV1 mutations is needed to prove that it is a significant susceptible gene for febrile and/or afebrile seizures in early childhood.

Just Say No!

PEDIATRICS ◽  
1990 ◽  
Vol 86 (4) ◽  
pp. 624-624
Author(s):  
JOHN M. FREEMAN
Keyword(s):  
Febrile Seizure ◽  
Febrile Seizures ◽  
National Institutes Of Health ◽  
Consensus Development ◽  
Consensus Development Conference ◽  
Focal Seizures ◽  
The Family ◽  
History Of ◽  
Neurologic Development

A seizure, even a febrile seizure, is terrifying to the family. Seeking reassurance that their child will not die and does not have epilepsy, parents turn to their physician. What is he or she to do? Often the physician prescribes medication "to prevent further seizures" and then reassures the family that the child will be fine if the medicine is given daily as directed. Both the recommendation and the reassurance are wrong. A Consensus Development Conference on Febrile Seizures held by the National Institutes of Health in 19801 concluded that they would only "consider" anticonvulsant prophylaxis when the child (1) had abnormal neurologic development, (2) had long or focal seizures, (3) had more than two seizures in 24 hours, (4) had a history of nonfebrile seizures in parent or sibling, or (5) was younger than 1 years of age.

scholarly journals Independent infections of porcine deltacoronavirus among Haitian children

Nature ◽  
2021 ◽  
Author(s):  
John A. Lednicky ◽  
Massimiliano S. Tagliamonte ◽  
Sarah K. White ◽  
Maha A. Elbadry ◽  
Md. Mahbubul Alam ◽  
...  
Keyword(s):  
Febrile Illness ◽  
Cell Receptor ◽  
Receptor Binding Domain ◽  
Mutational Signature ◽  
Host Cell Receptor ◽  
The Family ◽  
Genes Encoding ◽  
Animal Contact ◽  
Human Infections ◽  
Animal Reservoirs

AbstractCoronaviruses have caused three major epidemics since 2003, including the ongoing SARS-CoV-2 pandemic. In each case, the emergence of coronavirus in our species has been associated with zoonotic transmissions from animal reservoirs1,2, underscoring how prone such pathogens are to spill over and adapt to new species. Among the four recognized genera of the family Coronaviridae, human infections reported so far have been limited to alphacoronaviruses and betacoronaviruses3–5. Here we identify porcine deltacoronavirus strains in plasma samples of three Haitian children with acute undifferentiated febrile illness. Genomic and evolutionary analyses reveal that human infections were the result of at least two independent zoonoses of distinct viral lineages that acquired the same mutational signature in the genes encoding Nsp15 and the spike glycoprotein. In particular, structural analysis predicts that one of the changes in the spike S1 subunit, which contains the receptor-binding domain, may affect the flexibility of the protein and its binding to the host cell receptor. Our findings highlight the potential for evolutionary change and adaptation leading to human infections by coronaviruses outside of the previously recognized human-associated coronavirus groups, particularly in settings where there may be close human–animal contact.

A novel variant in PAX6 as the cause of aniridia in a Chinese family

2020 ◽  
Author(s):  
Xin Jin ◽  
Wei Liu ◽  
HouBin Huang
Keyword(s):  
Nonsense Mutation ◽  
Novel Mutation ◽  
Causative Mutation ◽  
Chinese Family ◽  
The Novel ◽  
Targeted Next Generation Sequencing ◽  
Iris Defect ◽  
The Family ◽  
Novel Variant ◽  
Pax6 Mutation

Abstract Background: Aniridia is a kind of congenital human panocular anomaly, which is related to PAX6 commonly. Methods: A Chinese Aniridia pedigree underwent ophthalmic examinations, including visual acuity, slit lamp and fundoscopy examination. The targeted next-generation sequencing of Aniridia genes was used to identify the causative mutation. Results: A novel heterozygous PAX6 nonsense mutation c.619A>T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotypes related to the novel mutation include nystagmus, iris defect, cataract and absence of macular fovea. Conclusion: The novel nonsense mutation in PAX6 was responsible for aniridia phenotype in the family. which expands the spectrum of the PAX6 mutation and its associated phenotype.

Alphaviruses

2010 ◽  
pp. 557-561
Author(s):  
E.E. Ooi ◽  
L.R. Petersen ◽  
D.J. Gubler
Keyword(s):  
Mosquito Species ◽  
Clinical Manifestations ◽  
Febrile Illness ◽  
Domestic Animals ◽  
Human Infection ◽  
Tissue Samples ◽  
The Family ◽  
Polymerase Chain ◽  
Complex Transmission ◽  
Diagnosis Of Infection

There are 29 registered alphaviruses belonging to the family Togaviridae, 16 of which are known to cause human infection. They are RNA viruses with global geographical distribution and complex transmission cycles between wild or domestic animals or birds and one or more mosquito species; humans are infected by mosquito bites. They cause a spectrum of clinical manifestations ranging from nonspecific febrile illness to acute encephalitis and death. Diagnosis of infection is made serologically by detection of IgM and IgG antibodies, virus isolation, and polymerase chain reaction, or by immunohistochemistry on tissue samples....

scholarly journals Serum Sodium Level on the Recurrence of Febrile Seizure within the Same Febrile Illness-Experience in a District Level Hospital

2019 ◽  
Vol 32 (1) ◽  
pp. 39-45
Author(s):  
M Luthfor Rahman ◽  
Belal Hossain ◽  
Belal Uddin ◽  
Sanaul Haq Mia
Keyword(s):  
Serum Sodium ◽  
Febrile Seizure ◽  
Sodium Level ◽  
Serum Sodium Level ◽  
Central Nervous System Infection ◽  
Febrile Illness ◽  
Febrile Seizures ◽  
Febrile Episode ◽  
Cross Sectional ◽  
Recurrent Seizure

Introduction: Febrile convulsion is the most common seizure disorder in the pediatric age group. It occurs in 2-5% of children. A febrile seizure is a seizure accompanied by fever (temperature 100.4°F or 38°C by any method), without central nervous system infection, that occurs in infants and children 6 through 60 months of age. Aim: The study was conducted to see the effect of serum sodium level on the recurrence of febrile seizure during the same febrile illness. Materials and Method: A cross-sectional descriptive study which enrolled 65 children admitted with febrile seizures at 100 bed district hospital, Naogaon. They were divided in to two groups, those with a single seizure and the rest were children with more than one seizures. Serum sodium levels were estimated after stabilization of patients. The probability of recurrent febrile seizures and serum sodium level was analyzed. Results: Hyponatremia (serum sodium <135 mmol/l) was seen in 12(18.5%) of 65 children and the remaining 81.5% children had normal serum sodium level (serum sodium 135-145 mmol/l). Among the hyponatremia group all children developed more than one seizure during the same febrile episode. The mean serum sodium level in patients with single and recurrent seizure was 138.48±2.17mmol/l and 135.27±3.11mmol/(P<0.001). The relationship between the probability of a recurrent seizure and serum sodium level is statistically highly significant. Conclusion: Estimation of the seum sodium in children with febrile seizures help in deciding for admission in hospital as well as to predict seizure recurrence within the same febrile episode. TAJ 2019; 32(1): 39-45

scholarly journals Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review

2019 ◽  
Author(s):  
Madoka Mori-Yoshimura ◽  
Tomoya Taminato ◽  
Jun Miki ◽  
Ryogen Sasaki ◽  
Noriko Satoh ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Clinical Symptoms ◽  
Muscle Stiffness ◽  
Causative Mutation ◽  
Exercise Tests ◽  
Muscle Involvement ◽  
Paramyotonia Congenita ◽  
Fatty Replacement ◽  
The Family ◽  
History Of

Abstract Introduction: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. Case presentation: We report a family with a history of PC accompanied by persistent distal hand dominant muscle weakness with masticatory muscle involvement. Persistent weakness was exacerbated with age, and MR analysis showed marked atrophy of temporal, masseter, and finger flexor muscles with fatty replacement. Cases within the family harbor the prevalent PC causative mutation, T1313M, in the SCN4A gene. Administration of acetazolamide chloride improved clinical symptoms and the results of cold and short exercise tests. Phenotypic variation within the family was remarkable, as the two younger affected patients did not present with persistent weakness or muscle atrophy. Conclusions: PC associated with the T1313M mutation is a possible cause of persistent distal hand weakness.

scholarly journals Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review

2019 ◽  
Author(s):  
Tomoya Taminato ◽  
Madoka Mori-Yoshimura ◽  
Jun Miki ◽  
Ryogen Sasaki ◽  
Noriko Satoh ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Clinical Symptoms ◽  
Muscle Stiffness ◽  
Causative Mutation ◽  
Exercise Tests ◽  
Muscle Involvement ◽  
Paramyotonia Congenita ◽  
Fatty Replacement ◽  
The Family ◽  
History Of

Abstract Introduction Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. Case presentation We report a family with a history of PC accompanied by persistent distal hand dominant muscle weakness with masticatory muscle involvement. Persistent weakness was exacerbated with age, and MR analysis showed marked atrophy of temporal, masseter, and finger flexor muscles with fatty replacement. Cases within the family harbor the prevalent PC causative mutation, T1313M, in the SCN4A gene. Administration of acetazolamide chloride improved clinical symptoms and the results of cold and short exercise tests. Phenotypic variation within the family was remarkable, as the two younger affected patients did not present with persistent weakness or muscle atrophy. Conclusions PC associated with the T1313M mutation is a possible cause of persistent distal hand weakness.

scholarly journals Iron deficiency anemia as a risk factor for simple febrile seizures in pediatric patients

2019 ◽  
Vol 6 (4) ◽  
pp. 1414 ◽  
Author(s):  
Bharath Kumar T. ◽  
Kanimozhi Thandapani ◽  
Vinod Babu S.
Keyword(s):  
Risk Factor ◽  
Iron Deficiency ◽  
Iron Deficiency Anemia ◽  
Serum Ferritin ◽  
Febrile Seizure ◽  
Hematological Parameters ◽  
Significant Risk ◽  
Febrile Illness ◽  
Deficiency Anemia ◽  
P Value

Background: Febrile seizure (FS) is the most common cause of seizure in children, occurring between 6-60 months. It coincides with peak age of incidence for Iron deficiency anemia (IDA). Iron is required for optimal growth and development and its deficiency is associated with numerous problems including persistent cognitive and motor delays. The objective was to study the role of IDA as a risk factor for simple febrile seizure and its recurrenceMethods: A case control study was conducted among 90 febrile children - 45 cases with simple febrile seizure and 45 cases with febrile illness, between the age group of six months to five years of age at Sri Manakula Vinayagar Medical College and Hospital, Pondicherry, between September 2013 and June 2015. The hematological parameters like Hemoglobin, Serum ferritin and RDW were compared between the two groups with respect to fever and different temperature intervals, recurrence of FS.Results: Hb and Serum Ferritin levels were found to be significantly associated with simple febrile seizure, with p value of <0.002 and 0.001 respectively. Similar association was found at different temperature intervals. However, there was no association of hematological parameters with FS recurrence.Conclusions: IDA is a significant risk factor for FS in children while same may not have any effect on the recurrence of FS.

Variant von Willebrand’s Disease

1980 ◽  
Vol 43 (01) ◽  
pp. 002-005 ◽  
Author(s):  
David Green ◽  
K J Philip
Keyword(s):  
Factor Viii ◽  
Bleeding Time ◽  
Excessive Bleeding ◽  
Von Willebrand's Disease ◽  
Von Willebrand’S Disease ◽  
Crossed Immunoelectrophoresis ◽  
The Family ◽  
History Of ◽  
Autosomal Dominance ◽  
Ristocetin Cofactor

Summary30 members of an Illinois kindred were studied with a battery of haemostatic tests including the template bleeding time, platelet retention by glass beads (PRGB), measurement of activities related to factor VIII, and crossed-immunoelectrophoresis (CIEP). 9 family members had a history of excessive bleeding, and all 9 had prolonged bleeding times and increased migration of their factor VIII-related antigen (VIIIR:Ag) on CIEP. Of the other tests performed, the VIII: Ristocetin Cofactor and the PRGB showed the best correlation with the bleeding time. 3 subjects who were not bleeders, but who came from a branch of the family where there were several affected members, also had an abnormal VIIIR: Ag. The pattern of inheritance of the altered VIIIR: Ag in this family was one of autosomal dominance with full penetrance. The CIEP is a valuable screening test for the detection of variant von Willebrand’s disease and the recognition of silent heterozygotes.

scholarly journals Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature

2018 ◽  
Vol 08 (02) ◽  
pp. 100-108
Author(s):  
Salvatore Savasta ◽  
Francesco Bassanese ◽  
Chiara Buschini ◽  
Thomas Foiadelli ◽  
Chiara Trabatti ◽  
...  
Keyword(s):  
Febrile Illness ◽  
Acute Encephalopathy ◽  
Developmental Regression ◽  
Leigh’S Syndrome ◽  
Progressive Encephalopathy ◽  
Whole Exome ◽  
The Family ◽  
Basal Ganglia Disease ◽  
Magnetic Resonance Imaging Mri ◽  
Stage 1

AbstractBiotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the SLC19A3 gene on chromosome 2q36.6. The disease is characterized by three stages: stage 1 is a sub-acute encephalopathy often triggered by febrile illness; stage 2 is an acute encephalopathy with seizures, loss of motor function, developmental regression, dystonia, external ophthalmoplegia, dysphagia, and dysarthria; stage 3 is represented by chronic or slowly progressive encephalopathy. Clinical and biochemical findings, as well as the magnetic resonance imaging (MRI) pattern, resemble those of Leigh's syndrome, so that BTRBGD can be misdiagnosed as a mitochondrial encephalopathy.Here we report the clinical and radiological phenotypes of two siblings diagnosed with BTRBGD in which a novel SLC19A3 mutation (NM_025243.3: c.548C > T; p.Ala183Val) was found by whole exome sequencing (WES) of the family members.

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