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Toldo, Irene (2010) COMORBIDIĂ€ TRA CEFALEA ED EPILESSIA IN ETĂ€ EVOLUTIVA: ASPETTI CLINICI E ANALISI MOLECOLARE DEL GENE SCN1A. [Ph.D. thesis]

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Abstract (english)

SUMMARY

Migraine and epilepsy are both common neurological disorders and can occur as comorbid conditions. The pathogenesis of the common forms of migraine is not completely understood, while many epilepsy syndromes have been pathogenetically linked to channellopaties. A particular migraine form, the familial hemiplegic migraine, is also due to mutations in genes encoding ion channels and is often associated to epileptic seizures.
The purpose of this study was to analyse in a large series of children and adolescents with headache (1795 subjects) the comorbidity between primary headache and idiopathic or cryptogenic epilepsy and to evaluate the role of the SCN1A gene in cases with comorbidity.
Among the 1795 headache sufferers, there were 1775 subjects diagnosed as primary headache (957 migraine, 686 tension-type headache, 132 other primary headaches) and 20 subjects diagnosed as secondary headache. Fifty-six subjects having comorbidity were selected.
The prevalence idiopathic or cryptogenic epilepsy or unprovoked seizures was 3.1% (56/1795) in headache sufferers and 4.8% (46/957) in migraineurs.
In subjects with comorbidity, the risk of epilepsy was 3.2-times higher in migraineurs (46/56) compared to tension-type headache sufferers (10/56), without a significant difference between migraine with and without aura (p=0.89); subjects with epilepsy had a 4.5-fold increased risk of developing migraine than tension-type headache.
In cases with comorbidity, focal epilepsies prevailed (43/56, 76.8%). Migraineurs affected by focal epilepsies (36/56) had a 3-times higher risk of having a cryptogenic epilepsy (27/36, 75%) than an idiopathic epilepsy (9/36, 25%) (p=0.003).
In migraine with aura, epilepsy preceded migraine in 71% of cases, thus excluding a causative role for migraine with aura in epilepsy. In cases with comorbidity, migraineurs did not have a major risk of post-ictal headache compared to tension-type headache sufferers (p=0.58). Post-ictal headache prevailed in subjects affected by cryptogenic temporo-occipital epilepsy (11/18, 61%) than the other types of epilepsy. Photosensitivity (7/56, 12.5%) and positive family history for epilepsy (22/56, 39%) were frequent in cases with comorbidity. In our series nobody experienced episodes of migralepsy or ictal epileptic headache.
In conclusions comorbidity between headache and epilepsy is common in children and adolescents and our results confirm a strong association between migraine and epilepsy, without significant difference between migraine with and without aura. Migraine is associated with higher rates of focal epilepsies, in particular cryptogenic epilepsies.
The analysis of the clinical relationship between headache (especially migraine) and epilepsy could contribute to understanding the pathogenetic mechanisms of these two conditions, mainly when they are comorbid. Further studies, based on the present diagnostic criteria of both disorders are needed.
To the best of our knowledge, this is the first study that evaluated the association between polymorphisms of the SCN1A gene and comorbidity between primary headache (especially migraine) and epilepsy.
Five non-synonymous exonic polymorphisms (c.1748A>T of exon 11; c.2656T>C of exon 15; c.3199A>G of exon 16; c.5771G>A of exon 26; c.5864T>C of exon 26) of the SCN1A gene were selected.
The single nucleotide polymorphisms (SNPs) genotyping was performed in 49 patients with comorbidity and 100 healthy non migraineurs controls by using a new tecnique, the High Resolution Melting (HRM).
Among the five SNPs analyzed, only c.3199A>G of exon 16 was confirmed to be a polymorphism while the other 4 SNPs were not true polymorphisms, because they were not found in the 298 alleles (cases and controls) examined and are not to be further investigated.
We didn’t find a statistically significant difference between distribution of c.3199A>G of exon 16 genotypes between cases and controls; therefore our results confirm that the polymorphism c.3199A>G of exon 16 is not associated to pathological phenotypes in headache sufferers and in migraineurs, similarly to that found in other studies conducted on patients with epilepsy.
We exclude the role of the SCN1A gene in the pathogenesis of comorbidity between headache (especially migraine) and epilepsy.
The SCN1A gene is a major gene in different epilepsies and epilepsy syndromes, and in this field it has to be further investigated. The HRM could be the new methodology, more rapid and efficacious, for molecular analysis of the SCN1A gene.
The development of protocols for more efficient and reliable molecular diagnostics would allow a wider appreciation of the role of the SCN1A gene and of other genes encoding for ion channels in different epilepsies and epilepsy syndromes.

Abstract (italian)

SOMMARIO

L’emicrania e l'epilessia sono disordini neurologici frequenti e possono essere presenti in comorbidità. La patogenesi delle forme comuni di emicrania non è del tutto chiarita, mentre in diverse sindromi epilettiche è noto il ruolo fisiopatologico delle canalopatie. Anche una particolare forma di emicrania, l'emicrania emiplegica familiare, è dovuta a mutazioni di geni codificanti per canali ionici ed è spesso associata a crisi epilettiche.
Lo scopo di questo studio è di analizzare, in un'ampia casistica di bambini e adolescenti cefalalgici (1795 soggetti), la comorbidità tra cefalea primaria ed epilessia idiopatica o criptogenetica e di valutare il ruolo del gene SCN1A nei soggetti con comorbidità.
Tra i 1795 cefalalgici analizzati, vi erano 1775 soggetti con diagnosi di cefalea primaria (957 emicrania, 686 cefalea tensiva, 132 altre cefalee primarie) e 20 soggetti con diagnosi di cefalea secondaria. Sono stati individuati 56 soggetti con comorbiditĂ .
La prevalenza di epilessia idiopatica o criptogenetica o crisi epilettiche isolate è risultata del 3,1% (56/1795) nei cefalalgici e del 4,8% (46/957) negli emicranici.
Nei soggetti con comorbiditĂ , il rischio di epilessia era 3,2 volte superiore negli emicranici (46/56) rispetto ai soggetti con cefalea tensiva (10/56), senza differenze significative tra emicrania con e senza aura (p=0.89); i soggetti con epilessia avevano un rischio 4,5 volte maggiore di presentare emicrania rispetto alla cefalea tensiva.
Nei casi con comorbidità, erano prevalenti le epilessie focali (43/56, 76,8%). Gli emicranici affetti da epilessie focali (36/56) avevano un rischio 3 volte superiore di presentare un’epilessia criptogenetica (27/36, 75%) rispetto ad un’epilessia idiopatica (9/36, 25%) (p = 0.003).
Nell’emicrania con aura, l'esordio dell’epilessia precedeva quello dell’emicrania nel 71% dei casi, escludendo pertanto un ruolo causale dell’emicrania con aura nell’epilessia. Nei casi con comorbidità, gli emicranici non avevano un rischio aumentato di cefalea post-critica rispetto ai soggetti con cefalea tensiva (p=0.58). La cefalea post-critica era più frequente nei soggetti con epilessia temporo-occipitale criptogenetica (11/18, 61%) rispetto agli altri tipi di epilessia.
La fotosensibilitĂ  (7/56, 12,5%) e la storia familiare positiva per epilessia (22/56, 39%) sono stati frequentemente riscontrati nei casi con comorbiditĂ . Nessuno dei soggetti con comorbiditĂ  ha presentato migralepsy o cefalea ictale epilettica.
In conclusione la comorbidità tra cefalea ed epilessia è frequente nei bambini e adolescenti e i nostri risultati confermano che vi è una forte associazione tra emicrania ed epilessia, senza differenze significative tra emicrania con e senza aura. L'emicrania è associata ad una maggiore prevalenza di epilessie focali, in particolare criptogenetiche.
L'analisi della relazione clinica tra la cefalea (in particolare emicrania) e l'epilessia potrebbe contribuire alla comprensione dei meccanismi patogenetici di queste due condizioni, soprattutto quando presenti in comorbiditĂ . Sono necessari ulteriori studi, basati sugli attuali criteri diagnostici di entrambi i disturbi.
A nostra conoscenza, questo è il primo studio che ha valutato l'associazione tra i polimorfismi del gene SCN1A e la comorbidità tra cefalea primaria (in particolare l'emicrania) ed epilessia.
Sono stati selezionati cinque polimorfismi esonici non sinonimi (c.1748A>T dell’esone 11; c.2656T>C dell’esone 15; c.3199A>G dell’esone 16; c.5771G> A dell'esone 26; c.5864T> C dell’esone 26) del gene SCN1A.
La genotipizzazione dei polimorfismi a singolo nucleotide (SNPs) è stata effettuata in 49 pazienti con comorbidità e 100 controlli sani non emicranici utilizzando una tecnica nuova, l’High Resolution Melting (HRM).
Dei cinque SNPs analizzati, solo il c.3199A> G dell’esone 16 è stato confermato come polimorfismo, mentre gli altri 4 SNPs non sono veri polimorfismi perché non sono stati trovati in nessuno dei 298 alleli (tra casi e controlli) esaminati, e pertanto non meritano di essere ulteriormente indagati.
Non abbiamo trovato una differenza statisticamente significativa nella distribuzione dei genotipi del polimorfismo c.3199A>G dell’esone 16 tra casi e controlli; quindi i nostri risultati confermano che il polimorfismo c.3199A>G dell’esone 16 non è associato a fenotipi patologici nei soggetti con cefalea ed emicrania, analogamente a quanto riscontrato in altri lavori condotti su soggetti affetti da epilessia.
Viene escluso un ruolo del gene SCN1A nella patogenesi della comorbiditĂ  tra cefalea primaria (in particolare l'emicrania) ed epilessia.
Il gene SCN1A è un gene di primaria importanza nella patogenesi di diverse epilessie e sindromi epilettiche, e in questo campo deve essere ulteriormente indagato. L’analisi HRM potrebbe essere la nuova metodologia, più rapida ed efficace, per l'analisi molecolare del gene SCN1A.
Lo sviluppo di protocolli diagnostica molecolare piĂą efficienti e affidabili potrebbe consentire una piĂą ampia valutazione del ruolo del gene SCN1A e di altri geni codificanti per canali ionici nelle diverse epilessie e sindromi epilettiche.

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EPrint type:Ph.D. thesis
Tutor:Battistella, Pier Antonio
Ph.D. course:Ciclo 22 > Scuole per il 22simo ciclo > MEDICINA DELLO SVILUPPO E SCIENZE DELLA PROGRAMMAZIONE > GENETICA BIOCHIMICA E MOLECOLARE
Data di deposito della tesi:UNSPECIFIED
Anno di Pubblicazione:January 2010
Key Words:cefalea, emicrania, epilessia, comorbiditĂ , SCN1A
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/39 Neuropsichiatria infantile
Struttura di riferimento:Dipartimenti > pre 2012 - Dipartimento di Pediatria
Codice ID:2526
Depositato il:28 Sep 2010 12:52
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