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Cited by 361Migraine and Headache StudiesTraumatic Brain Injury ResearchTraumatic Brain Injury and Neurovascular Disturbances

The DOI matches its Crossref record; 38 of the 39 references it cites were found in a registry or an index.

Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

Kors, Esther E., Terwindt, Gisela M., Vermeulen, Frans L.M.G., Fitzsimons, Robin B., Jardine, Philip E., Heywood, Peter, Love, Seth, Van Den Maagdenberg, Arn M.J.M., Haan, Joost, Frants, Rune R., Ferrari, Michel D.·2001·Annals of Neurology
DOI 10.1002/ana.1031
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Abstract

Trivial head trauma may be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a lucid interval ("delayed cerebral edema"). Attacks of familial hemiplegic migraine (FHM) can be triggered by minor head trauma and are sometimes accompanied by coma. Mutations in the CACNA1A calcium channel subunit gene on chromosome 19 are associated with a wide spectrum of mutation-specific episodic and chronic neurological disorders, including FHM with or without coma. We investigated the role of the CACNA1A gene in three subjects with delayed cerebral edema. Two subjects originated from a family with extreme FHM, and one subject was the previously asymptomatic daughter of a sporadic patient with hemiplegic migraine attacks. In all three subjects with delayed severe edema, we found a C-to-T substitution resulting in the substitution of serine for lysine at codon 218 (S218L) in the CACNA1A gene. The mutation was absent in nonaffected family members and 152 control individuals. Haplotype analysis excluded a common founder for both families. Neuropathological examination in one subject showed Purkinje cell loss with relative preservation of granule cells and sparing of the dentate and inferior olivary nuclei. We conclude that the novel S218L mutation in the CACNA1A calcium channel subunit gene is involved in FHM and delayed fatal cerebral edema and coma after minor head trauma. This finding may have important implications for the understanding and treatment of this dramatic syndrome.

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Crossref · 10.1002/ana.1031

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  1. Miller, 1988, Nucleic Acids Res, 16

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Metadata

Authors
Kors, E. E., Terwindt, G. M., Vermeulen, F. L. M. G., Fitzsimons, R. B., Jardine, P. E., Heywood, P., Love, S., Van Den Maagdenberg, A. M. J. M., Haan, J., Frants, R. R., & Ferrari, M. D.
Affiliations
  • Leiden University Medical Center (NL)
  • Frenchay Hospital (GB)
Corresponding author
Ferrari, Michel D.
ORCID
Venue
Annals of Neurology
Publisher
Wiley
Published
2001
Volume
49
Issue
6
Pages
753-760
ISSN
  • 0364-5134 (ISSN-L)
  • 1531-8249
DOI
10.1002/ana.1031
OpenAlex
W1986788837
Cited by
361
References
39
Citations by year
2026: 6 · 2025: 10 · 2024: 8 · 2023: 13 · 2022: 6 · 2021: 18 · 2020: 14 · 2019: 15 · 2018: 12 · 2017: 10 · 2016: 13 · 2015: 19 · 2014: 15 · 2013: 15 · 2012: 22
FWCI
8.37
Type
journal article
Language
en
Open access
closed
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 5356 d)
Locations
  • Annals of Neurology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Clinical Neurology › Migraine and Headache Studies
  • Health Sciences › Medicine › Clinical Neurology › Traumatic Brain Injury Research
  • Health Sciences › Medicine › Clinical Neurology › Traumatic Brain Injury and Neurovascular Disturbances
Keywords
mild traumatic brain injury, familial hemiplegic migraine, CACNA1A gene, P/Q-type calcium channels, Purkinje cell degeneration, genetic susceptibility
MeSH terms
Adolescent, Adult, Amino Acid Sequence, Australia, Brain Edema, Cerebellar Cortex, Child, Preschool, Coma, DNA Mutational Analysis, England, Female, Haplotypes, Craniocerebral Trauma, Heterozygote, Humans, Male, Molecular Sequence Data, Pedigree, Purkinje Cells, Calcium Channels, Polymorphism, Single-Stranded Conformational, Mutation, Missense, Migraine with Aura, Calcium Channels, N-Type, Protein Subunits

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