Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
INTRODUCTION
Migraine is a common neurological disorder characterized by a particular phenotype, complex pathophysiology and a heterogeneous genetic background. Among several heritable forms, familial hemiplegic migraine is the best described one. In the majority of cases it is caused by mutations in one of three different genes.


CASE REPORT
Clinical symptoms of a 47 year old proband (and independently described in his 20 year old son) as well as differential diagnosis are discussed in the presented report. The most characteristic were recurrent attacks of blurred vision, paresthesias and hemiparesis often accompanied by speech disturbances and followed by severe headache with vomiting. Advanced morphological and genetic procedures were required to exclude MELAS, CADASIL and Call-Fleming syndrome. Finally, the definite diagnosis was possible after the application of the whole exome sequencing technique. It confirmed, for the first time in the Polish population, a heterozygous T666M mutation (c.1997C>T; p.Thr666Met) in the CACNA1A gene in the proband, the proband's son and in several other family members.


CONCLUSION
The presented report provides clinical and genetic insight into familial hemiplegic migraine 1 resulting from a mutation in the CACNA1A gene.
['Kierdaszuk|Biruta|B|', 'Dziewulska|Dorota|D|', 'Pronicka|Ewa|E|', 'Trubicka|Joanna|J|', 'Rokicki|Dariusz|D|', 'Piekutowska-Abramczuk|Dorota|D|', 'Kaliszewska|Magdalena|M|', 'Tonska|Katarzyna|K|', 'Bartnik|Ewa|E|', 'Ploski|Rafal|R|', 'Kaminska|Anna M|AM|']
D001921:Brain D015220:Calcium Channels D004252:DNA Mutational Analysis D003937:Diagnosis, Differential D006580:Genetic Carrier Screening D055106:Genome-Wide Association Study D006801:Humans D008279:Magnetic Resonance Imaging D008297:Male D008875:Middle Aged D020325:Migraine with Aura D010375:Pedigree D011044:Poland D055815:Young Adult
CACNA1A Familial hemiplegic migraine Migraine Calcium channel