Format

Send to

Choose Destination
See comment in PubMed Commons below
Cephalalgia. 2015 Jan;35(1):10-5. doi: 10.1177/0333102414532379. Epub 2014 May 13.

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.

Author information

1
Department of Human Genetics, Leiden University Medical Centre, the Netherlands.
2
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, the Netherlands.
3
Neurosciences Unit, Institute of Child Health, UCL Medical School and Great Ormond Street Hospital for Children NHS Trust, UK.
4
UCL Institute of Neurology, UK.
5
Neurosciences Unit, Institute of Child Health, UCL Medical School and Great Ormond Street Hospital for Children NHS Trust, UK Department of Neurology, Rijnland Hospital, the Netherlands.
6
Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, the Netherlands.
7
Department of Neurology, Leiden University Medical Center, the Netherlands.
8
Department of Human Genetics, Leiden University Medical Centre, the Netherlands Department of Neurology, Leiden University Medical Center, the Netherlands.
9
Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, the Netherlands.
10
Department of Neurology, Leiden University Medical Center, the Netherlands G.M.Terwindt@lumc.nl.

Abstract

BACKGROUND:

Hemiplegic migraine (HM) and alternating hemiplegia of childhood (AHC) are rare episodic neurological brain disorders with partial clinical and genetic overlap. Recently, ATP1A3 mutations were shown to account for the majority of AHC patients. In addition, a mutation in the SLC2A1 gene was reported in a patient with atypical AHC. We therefore investigated whether mutations in these genes may also be involved in HM. Furthermore, we studied the role of SLC2A1 mutations in a small set of AHC patients without ATP1A3 mutations.

METHODS:

We screened 42 HM patients (21 familial and 21 sporadic patients) for ATP1A3 and SLC2A1 mutations. In addition, four typical AHC patients and one atypical patient with overlapping symptoms of both disorders were screened for SLC2A1 mutations.

RESULTS:

A pathogenic de novo SLC2A1 mutation (p.Gly18Arg) was found in the atypical patient with overlapping symptoms of AHC and hemiplegic migraine. No mutations were found in the HM and the other AHC patients.

CONCLUSION:

Screening for a mutation in the SLC2A1 gene should be considered in patients with a complex phenotype with overlapping symptoms of hemiplegic migraine and AHC.

KEYWORDS:

SLC2A1 gene; GLUT1 deficiency syndrome; Hemiplegic migraine (HM); alternating hemiplegia of childhood (AHC); exercise-induced dystonia

PMID:
24824604
DOI:
10.1177/0333102414532379
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Atypon
    Loading ...
    Support Center