Benign Familial Neonatal Epilepsy

Description

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

Clinical Features

Phenotypes and symptoms related to Benign Familial Neonatal Epilepsy

  • Seizures
  • Cognitive impairment
  • Hypertonia

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

Benign Familial Neonatal Epilepsy Is also known as bfns, benign familial neonatal convulsions, benign familial neonatal seizures.

Researches and researchers

Doctors, researchs, and experts related to Benign Familial Neonatal Epilepsy extracted from public data.

Benign Familial Neonatal Epilepsy Experts map



Current Researchs and researchers

  • LYON — Pr Alain CALENDER

    Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory

    • Institution/s:
      — CHU de Lyon HCL - GH Edouard Herriot
    • Research area/topic::

      Research group on epilepsies


  • BERLIN — Pr Thomas J. JENTSCH

    Investigator of research project - Director of department

    • Institution/s:
      — Leibniz-Institut für Molekulare Pharmakologie
      — Leibniz-Institut für Molekulare Pharmakologie
    • Research area/topic::

      KCNQ2, -3 and -5 Potassium Channels: a Molecular Basis for Neuronal M-Currents


  • NAPOLI — Pr Maurizio TAGLIALATELA

    Investigator of research project

    • Institution/s:
      — Azienda Ospedaliera Universitaria "Federico II"
    • Research area/topic::

      Genotype-phenotype correlations, novel pathogenetic mechanisms, and pilot clinical studies in neonatal epilepsies associated to mutations in the KCNQ2/3 potassium channel genes


  • ROMA — Dr Maria Roberta CILIO

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Research area/topic::

      EUROBNFS: Benign Familial Neonatal Seizures (BNFS) as a disease model for human idiopathic epilepsies: expansion of genotype-phenotype correlations and insights into novel disease mechanisms



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Benign Familial Neonatal Epilepsy 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
3 %
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 %
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
2 %
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
3 %
Genes
100 %
Infantile Epilepsy.

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

SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, ZEB2, LIAS, ARX, MAGI2 , (...)

View the complete list with 40 more genes
Specificity
4 %
Genes
100 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, SPTAN1, CDKL5, STXBP1, SUOX, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CERS1, PCDH19 , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
100 %
Comprehensive Epilepsy Panel.

By GeneDx (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, SPTAN1, CDKL5, STXBP1, SYN1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CACNB4, PCDH19, ZEB2, DNAJC5, EFHC1 , (...)

View the complete list with 50 more genes
Specificity
3 %
Genes
100 %
STAT Epilepsy Panel.

By GeneDx (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SPTAN1, CDKL5, STXBP1, PCDH19, ARX, PNPO, FOLR1, KCNQ2, KCNQ3, MECP2, MEF2C, ALDH7A1, POLG
Specificity
12 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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