Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes

Author:

Cuenca-León E1,Corominas R1,Fernàndez-Castillo N23,Volpini V4,del Toro M1,Roig M1,Macaya A1,Cormand B235

Affiliation:

1. Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Hospital Universitari Vall d'Hebron

2. Departament de Genètica, Universitat de Barcelona

3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III

4. Centre for Molecular Genetic Diagnosis—-IDIBELL, l'Hospitalet de Llobregat,

5. Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain

Abstract

Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in< 15± of our HM patients further stresses the genetic heterogeneity underlying the presumably monogenic forms of migraine.

Publisher

SAGE Publications

Subject

Neurology (clinical),General Medicine

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1. Benign Paroxysmal Torticollis;Life;2024-05-31

2. A neurodevelopmental disorder caused by a dysfunctional CACNA1A allele;eNeurologicalSci;2023-06

3. Hemiplegic Migraine in Children and Adolescents;Journal of Clinical Medicine;2023-05-31

4. Benign paroxysmal torticollis;Handbook of Clinical Neurology;2023

5. CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options;Voltage-gated Ca2+ Channels: Pharmacology, Modulation and their Role in Human Disease;2023

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