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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMigraine, hemiplegic; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for hemiplegic migraine comprising 6 expert opinion-curated genes and altogether 9 curated genes according to the clinical signs

ID
MP0930
Number of genes
7 Accredited laboratory test
Examined sequence length
18,1 kb (Core-/Core-canditate-Genes)
24,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATP1A23063NM_000702.4AD
CACNA1A6786NM_001127221.2AD
KCNK181155NM_181840.1AD
PRRT21023NM_145239.3AD
SCN1A6030NM_001165963.4AD
ATP1A33042NM_152296.5AD
ATP1A43143NM_001001734.2AD

Informations about the disease

Clinical Comment

Familial hemiplegic migraine (FHM) usually causes intense pain in an area of the head, often accompanied by nausea, vomiting and extreme sensitivity to light as well as sound. The recurring headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress or even minimal head trauma. In FHM, the headache is preceded by an aura with scotomas, flashes, double vision and weakness, often accompanied by hemiparesis, speech disturbances, confusion and drowsiness. Severe episodes are accompanied by fever, seizures, persistent weakness, coma and are rarely lethal. Most patients recover fully between episodes, but memory and attention deficits may persist. Some 20% of patients develop mild, permanent ataxia and nystagmus. The differential diagnosis should include MELAS, MERFF, CADASIL (NOTCH1 gene), and hereditary hemorrhagic telangiectasias (ENG, ACVRL1, SMAD4 genes). FHM is usually inherited in an autosomal dominant manner. The DNA diagnostic yield is low, approximately 30%. Therefore, an inconspicuous molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1388/

 

Synonyms
  • Alias: Familial or sporadic hemiplegic migraine
  • Alias: Migraine, familial hemiplegic
  • Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
  • Allelic: CAPOS syndrome (ATP1A3)
  • Allelic: Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • Allelic: Dystonia-12 (ATP1A3)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
  • Allelic: Epileptic encephalopathy, early infantile, 42 (CACNA1A)
  • Allelic: Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
  • Allelic: Episodic ataxia, type 2 (CACNA1A)
  • Allelic: Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Allelic: Febrile seizures, familial, 3A (SCN1A)
  • Allelic: Migraine, familial basilar (ATP1A2)
  • Allelic: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Allelic: Renal tubular acidosis, proximal, with ocular abnormalities (SLC1A4)
  • Allelic: Seizures, benign familial infantile, 2 (PRRT2)
  • Allelic: Spinocerebellar ataxia 6 (CACNA1A)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Episodic ataxia, type 6 (SLC1A3)
  • Familial hemiplegic migraine [MONDO:0000700, panelapp red] (ATP1A4)
  • Migraine, familial hemiplegic, 1 (CANA1A)
  • Migraine, familial hemiplegic, 2 (ATP1A2)
  • Migraine, familial hemiplegic, 3 (SCN1A)
  • Migraine, with/-out aura, susceptibility to, 13 (KCNK18)
  • Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined