Familial Encephalopathy With Neuroserpin Inclusion Bodies

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Encephalopathy With Neuroserpin Inclusion Bodies

  • Seizures
  • Nystagmus
  • Dysarthria
  • Tremor
  • Dystonia
  • Cerebral atrophy
  • Depressivity
  • Encephalopathy
  • Pneumonia
  • Dementia

And another 18 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

Familial Encephalopathy With Neuroserpin Inclusion Bodies Is also known as fenib, encephalopathy, familial, with collins bodies.

Researches and researchers

Doctors, researchs, and experts related to Familial Encephalopathy With Neuroserpin Inclusion Bodies extracted from public data.

Familial Encephalopathy With Neuroserpin Inclusion Bodies Experts map



Current Researchs and researchers

  • MILANO — Pr Martino BOLOGNESI

    Investigator of research project

    • Institution/s:
      — Universit√† degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
      — Universit√† degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
    • Research area/topic::

      Neuroserpin misfolding and FENIB neurodegeneration: mechanism and inhibition processes



Mendelian

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Familial Encephalopathy With Neuroserpin Inclusion Bodies Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Encephalopathy with neuroserpin inclusion bodies (sequence analysis of SERPINI1 gene).

By CGC Genetics (Portugal).

SERPINI1
Specificity
100 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Encephalopathy, familial, with neuroserpin inclusion bodies.

By Centogene AG - the Rare Disease Company (Germany).

SERPINI1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel.

By CeGaT GmbH (Germany).

DNAJC5, SCARB2, PRICKLE1, PRICKLE2, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, CSTB, CTSD, CTSF, MFSD8, AFG3L2, EPM2A, GOSR2, GRN, ASAH1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC (Estonia).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, ST3GAL5, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TCF4 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %

We have 8 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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