Hemiplegic migraine

Baba, Yahya

doi:10.53347/rid-156404

Cited by 1 publication

(2 citation statements)

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“…Of those, more than 83% of the pathogenic variants manifest as FHM (HGMD database), especially FHM-2. Most of FHM patients have aura symptoms (visual field defects, diplopia, apraxia, dysarthria, hearing loss or vertigo); the most prominent symptom is migraine with aura, accompanied by hemiplegia, diffuse brain swelling, cerebellar ataxia, confusion, etc., with only a few seizures, intellectual disability or coma (Kumar et al, 2022). AHC, EIEE, polymicro-cerebral gyrus, transient cytotoxic edema, and other symptoms accounted for only a small proportion of ATP1A2 related disease.…”

Section: Introductionmentioning

confidence: 95%

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A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

Zhang

Qiu

et al. 2023

Molec Gen & Gen Med

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Background Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and so on. Here, we present a novel heterozygous ATP1A2 variant in a girl with alternating hemiplegia, febrile seizures, developmental delay (which subsequently subsided), and MELAS‐like syndrome (as indicated by brain MRI). The patient did not experience migraine with aura. Methods The patient was an 8‐year‐old girl with normal growth and development. Beginning from the age of 3 years and 8 months, the patient experienced several episodes of alternating limb paralysis. The episodes were accompanied by the appearance of MELAS‐like findings on brain MRI, which corresponded to the hemiplegia. There were abnormal linear signals in the cerebral cortex on the opposite side of the hemiplegic limb. Each time the patient recovered from hemiplegia, and each time MRI showed no lesions remained after recovery. No obvious abnormality was found in other examinations. Finally, the patient underwent whole‐exome sequencing (WES). Results WES revealed a novel and de novo heterozygous variant in the ATP1A2 (NM_000702.3) c.335C>A:p.Ala112Asp (not previously reported). We examined the variant position in the 3D protein structure and found that a missense mutation at this site is a nonconservative substitution. The variation is nonpolymorphic. It occurs at a very low frequency in the population, and its ACMG classification is likely pathogenic. Conclusion At present, there are limited reports of mutations in the ATP1A2 gene causing AHC. This is the first case of brain MRI showing MELAS‐like imaging in an AHC patient, and more cases are needed for verification. Early genetic testing and family screening can aid in the diagnosis and treatment of genetic diseases. The relationship between ATP1A2 gene mutation genotype and clinical phenotype needs to be further studied.

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Section: Introductionmentioning

confidence: 95%

“…Most importantly, she does not have migraine with aura, or a family history of FHM. Therefore, FHM can be ruled out (Kumar et al, 2022). The duration of hemiplegia in children with AHC is usually from a few minutes to several days, and it is difficult to detect related lesions on imaging (Swoboda et al, 2004;Yang et al, 2021).…”

Section: Mutationmentioning

confidence: 99%

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

Zhang

Qiu

et al. 2023

Molec Gen & Gen Med

View full text Add to dashboard Cite

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Hemiplegic migraine

Cited by 1 publication

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A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

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