Familial Or Sporadic Hemiplegic Migraine

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).

Genes related to Familial Or Sporadic Hemiplegic Migraine

CACNA1A
ATP1A2
PRRT2
SCN1A

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Clinical Features

Top most frequent phenotypes and symptoms related to Familial Or Sporadic Hemiplegic Migraine

Seizures
Ataxia
Nystagmus
Sensorineural hearing impairment
Blindness
Vomiting
Headache
Photophobia
EEG abnormality
Neurological speech impairment

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE have a estimated prevalence of 10 per 100k worldwide.
— No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Familial Or Sporadic Hemiplegic Migraine extracted from public data.

Familial Or Sporadic Hemiplegic Migraine Experts map

Current Researchs and researchers

MÜNCHEN — Pr Martin DICHGANS
Clinical expert - Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of laboratory
- Institution/s:
  — Neurologische Klinik und Poliklinik, LMU Klinikum der Universität München - Campus Großhadern
  — Klinikum der Universität München
- Research area/topic::
  Genetics of familial and sporadic hemiplegic migraine (Investigations on CACNA1A, ATP1A2 und SCN1A genes)

TÜBINGEN — Dr Tobias FREILINGER
Investigator of research project
- Institution/s:
  — Zentrum für Neurologie, Hertie-Institut für klinische Hirnforschung (HIH)
- Research area/topic::
  Genetics of familial and sporadic hemiplegic migraine (Investigations on CACNA1A, ATP1A2 und SCN1A genes)

MILANO — Dr Maria Pia ABBRACCHIO
Investigator of research project
- Institution/s:
  — Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
- Research area/topic::
  Genetic and micro-environmental factors regulate the role of atp as transmitter of pain in a migraine model

PADOVA — Pr Daniela PIETROBON
Investigator of research project
- Institution/s:
  — Università degli Studi di Padova- Polo A.Vallisneri
- Research area/topic::
  Familial hemiplegic migraine mechanisms

PORTO — Pr Isabel SILVEIRA
Investigator of research project
- Institution/s:
  — Instituto de Biologia Molecular e Celular
- Research area/topic::
  CACNA1A gene involvement in cognition and synaptic function in calcium channel disease.

PORTO — Dr Isabel ALONSO
Responsible for diagnostic tests - Investigator of research project
- Institution/s:
  — Instituto de Biologia Molecular e Celular
  — Instituto de Biologia Molecular e Celular
- Research area/topic::
  Search for disease modifiers in spinocerebellar ataxias: human and animal-based approaches.

Familial Or Sporadic Hemiplegic Migraine Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA6 (CACNA1A) Repeat Expansion Test. By Athena Diagnostics Inc (United States). CACNA1A Specificity 100 % Genes 25 %
Ataxia, Common Repeat Expansion Evaluation. By Athena Diagnostics Inc (United States). ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATXN3 Specificity 13 % Genes 25 %
Episodic Ataxia Evaluation. By Athena Diagnostics Inc (United States). SLC1A3, CACNA1A, CACNB4, KCNA1 Specificity 25 % Genes 25 %
Ataxia, Comprehensive Evaluation. By Athena Diagnostics Inc (United States). SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...) View the complete list with 22 more genes Panel complete gene list SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14, SIL1, FLVCR1, ANO10, MTPAP, ATN1, AFG3L2, EEF2, FGF14, FXN, SETX, GRM1, ITPR1, KCNA1, KCNC3, KCND3, ATXN3, MRE11, ATM, PDYN, POLG, PPP2R2B, PRKCG Specificity 3 % Genes 25 %
Ataxia, Supplemental Dominant Evaluation. By Athena Diagnostics Inc (United States). SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG Specificity 7 % Genes 25 %
Ataxia, Complete Dominant Evaluation. By Athena Diagnostics Inc (United States). ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...) View the complete list with 5 more genes Panel complete gene list ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, ATXN3, PDYN, PPP2R2B, PRKCG Specificity 4 % Genes 25 %
Hemiplegic Migraine Sequencing Evaluation. By Athena Diagnostics Inc (United States). SCN1A, CACNA1A, ATP1A2 Specificity 100 % Genes 75 %
CACNA1A Sequencing Test. By Athena Diagnostics Inc (United States). CACNA1A Specificity 100 % Genes 25 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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