Elsevier

Neuroscience Letters

Volume 388, Issue 2, 11 November 2005, Pages 71-74
Neuroscience Letters

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

https://doi.org/10.1016/j.neulet.2005.06.026Get rights and content

Abstract

A missense mutation in the gene encoding the α2 subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 is responsible for pure BFIC syndromes, we checked mutations of the ATP1A2 gene in probands of 12 Italian multiplex families with pure BFIC, who were negative for mutations in the SCN2A gene. We screened the ATP1A2 gene by denaturing high performance liquid chromatography (D-HPLC) and direct sequencing of DNA fragments showing an aberrant elution pattern. We found one exonic variant and five intronic variants, none leading to significant amino acid changes or causing a modification of the physiological mRNA maturation. The ATP1A2 gene does not appear to be involved in the ethiopathogenesis of pure BFIC syndromes, at least in the explored Italian multiplex families. It could be either responsible of a minority of cases, or of complex syndromes where BFIC and FHM co-occur.

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Acknowledgments

We are grateful to the patients, to the Lega Italiana Contro l’Epilessia, to Drs. Amedeo Bianchi, Bernardo Dalla Bernardina, Roberto Gaggero, Antonio Gambardella, Maria Luisa Lispi, Greg B Nelson, Francesca Vanadio, Marilena Vecchi, Pierangelo Veggiotti, Federico Vigevano and Franco Viri for clinical data on their patients, and to the Agarini Foundation.

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    The Na/K-ATPases account for the majority of the energy consumption of the mammalian brain via the use of energy-rich ATP, and this biological process has been reported to be associated with neurological diseases in human beings [10]; e.g., alternating hemiplegia of childhood [8,10] and rapid-onset dystonia with parkinsonism [38,39]. Previous studies have examined whether ATP1A2 mutations are related to idiopathic generalized epilepsy, temporal lobe epilepsy and benign familial infantile seizures, but no significant variations have been found [40–42]. Moreover, other studies have indicated that epilepsy combined with migraine and benign familial infantile convulsions are associated with ATP1A2 mutations [6,11].

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    After that Vanmolkot et al. (2003) reported mutations in the Na+, K+-ATPase pump gene ATP1A2 situated at chromosome 1q23 associated with FHM and BFIS. In contrast, no mutation in ATP1A2 has been seen in families with pure BFIS, suggesting that BFIS with FHM and only BFIS are genetically different (Martinelli Boenschi et al., 2005). Recently a BFIS-like syndrome with late onset and febrile seizures has been presented as associated to chromosome 16p11.2–16q12.1 (Weber et al., 2008).

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