Encephalopathy, Acute, Infection-induced, Susceptibility To, 4; Iiae4

Description

Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by Chen et al., 2005; Shinohara et al., 2011).For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}.

Clinical Features

Phenotypes and symptoms related to Encephalopathy, Acute, Infection-induced, Susceptibility To, 4; Iiae4

  • Seizures
  • Fever
  • Edema
  • Encephalopathy
  • Coma
  • Febrile seizures
  • Cerebral edema
  • Acute encephalopathy

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Encephalopathy, Acute, Infection-induced, Susceptibility To, 4; Iiae4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
CPT2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CPT2
Specificity
100 %
Genes
100 %
CPT2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CPT2
Specificity
100 %
Genes
100 %
CPT2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

CPT2
Specificity
100 %
Genes
100 %
CPT2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CPT2
Specificity
100 %
Genes
100 %
Fatty Acid Oxidation Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, ACADL, ACADM, ACADS, ACADVL
Specificity
6 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %

We have 122 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE IID; USH2D SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE RETINITIS PIGMENTOSA 69; RP69 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS WILSON DISEASE

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more