Seizures, Benign Familial Infantile, 3; Bfis3

Description

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, {121200}) has a slightly earlier onset.

Clinical Features

Top most frequent phenotypes and symptoms related to Seizures, Benign Familial Infantile, 3; Bfis3

  • Seizures
  • Fever
  • Apnea
  • Focal-onset seizure
  • Febrile seizures
  • Cyanosis
  • Focal impaired awareness seizure
  • Muscle fibrillation
  • Atonic seizures
  • Generalized tonic-clonic seizures with focal onset

And another 2 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Seizures, Benign Familial Infantile, 3; Bfis3 Is also known as bfic3, bfnis, convulsions, benign familial infantile, 3, seizures, benign familial neonatal-infantile.

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.

Seizures, Benign Familial Infantile, 3; Bfis3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms.

By Athena Diagnostics Inc (United States).

SCN2A, ST3GAL3, SLC35A2, SPTAN1, CDKL5, STXBP1, CACNA2D1, ARX, SLC25A22, ADSL, TBL1XR1, FOXG1, GABRB3, GRIN2A, MEF2C, NR2F1
Specificity
7 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Childhood Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, CDKL5, SYN1, UBE3A, CNTNAP2, CACNB4, ZEB2, EFHC1, PRICKLE1, MAGI2, CHRNA2, CHRNA4, CHRNB2, MBD5, TPP1, CLN3 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %

You can get up to 108 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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