De novo mutations in
            <i>ATP1A2</i>
            and
            <i>CACNA1A</i>
            are frequent in early-onset sporadic hemiplegic migraine

Riant, Florence; Ducros, Anne; Ploton, Claire; Barbance, Cécile; Depienne, Christel; Tournier‐Lasserve, Elisabeth

doi:10.1212/wnl.0b013e3181f25e8f

Cited by 115 publications

(111 citation statements)

References 24 publications

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“…Both migraine and epilepsy have an important genetic component, with strong evidence pointing to a shared genetic basis between headache and epilepsy emerging from clinical/EEG and genetic studies on Familial Hemiplegic Migraine (FHM) (Haglund and Schwartzkroin 1990;De Fusco et al 2003;Vanmolkot et al 2003;Kors et al 2004;Dichgans et al 2005;De Vries et al 2009;Tottene et al 2009Tottene et al , 2011Gambardella and Marini 2009;Van Den Maagdenberg et al 2010;Riant et al 2010;Pietrobon 2010;Uchitel et al 2012). Errors in the same gene may be associated with migraine in some cases and with epilepsy in others.…”

Section: Common Pathways Substrates and Geneticsmentioning

confidence: 99%

“…In particular, it is likely that voltage-gated ion channels play a critical role in the pathways associated with migraine and epilepsy (Vanmolkot et al 2003;Kors et al 2004;Dichgans et al 2005;De Vries et al 2009;Tottene et al 2009;Gambardella and Marini 2009;Van Den Maagdenberg et al 2010;Riant et al 2010;Pietrobon 2010).…”

Section: Common Pathways Substrates and Geneticsmentioning

confidence: 99%

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The Complex Relationship Between Epilepsy and Headache and the Concept of Ictal Epileptic Headache

Parisi

2014

Contemporary Clinical Neuroscience

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Key Points-Headache/migraine is often associated with epilepsy in children, as a pre-ictal, ictal, post-ictal or inter-ictal phenomenon.-Epidemiological aspects of the co-morbidity between epilepsy and headache are clearly different in children and adults.-Headache as a symptom, with migraine characteristics and/or tension-type headache characteristics, may be the only clinical ictal manifestation of an epileptic seizure: this condition is now classified as "ictal epileptic headache".-In particular, according to published criteria, the term "ictal epileptic headache" must be used in cases of a headache/migraine attack as the sole clinical ictal symptom of epileptic origin, confirmed by ictal-EEG recording and clinical-EEG responsiveness to intravenous antiepileptic drugs.-EEG is not recommended as a routine examination for children diagnosed with headache, but is mandatory and must be carried out promptly in cases of prolonged migraine/headache that does not respond to antimigraine drugs and in which epilepsy is suspected.-This is not a marginal question, because these possible, isolated, non-motor, ictal manifestations (i.e. ictal epileptic headache) should be taken into account before declaring an epileptic patient as "seizure free" so as to be able to suspend anticonvulsant therapy safely. SummaryThe possible link/comorbidity (causal or not causal) between epilepsy and headaches has been a topic of debate for over a hundred years, ever Since William Richard Gowers's time. In recent decades, new data have emerged in favor of a non-random relationship between these two entities. They are both characterized by transient attacks of altered brain function with a clinical, pathophysiological, genetic and therapeutic overlap, and may thus mimic each other. Indeed, the clinical distinction between headache and epilepsy may make the differential diagnosis a highly challenging task. Both are common and often co-morbid, with headache attacks in epilepsy being temporally related to the occurrence of epileptic seizures as a pre-ictal, ictal, post-ictal or inter-ictal event. Yet, they are both paroxysmal and chronic neurological disorders that share many clinical and epidemiological aspects, and they may both present with visual, cognitive, sensitive-sensorial and motor signs/symptoms; these neurophysiologicl phenomena arise from the cerebral cortex and are modulated by sub-cortical connections. Even from an epidemiological point of view, data in the literature regarding the co-morbidity between headache and epilepsy appear to be quite distinct in children. What makes this scenario even more variegated and complex are new data suggesting that a headache may, in some cases, even be the only ictal manifestation of an epileptic seizure. The latter condition, the so-called "ictal epileptic headache", is a new entity that has recently been cited in the new classification of headache disorders (ICHD-III), whose diagnostic criteria have very recently been defined and published. The data that have led, over the last decade, to the...

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Section: Common Pathways Substrates and Geneticsmentioning

confidence: 99%

Section: Common Pathways Substrates and Geneticsmentioning

confidence: 99%

The Complex Relationship Between Epilepsy and Headache and the Concept of Ictal Epileptic Headache

Parisi

2014

Contemporary Clinical Neuroscience

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“…The likelihood of identifying a mutation increases when HM attacks started before 16 years old, as in both families reported by Weller et al (5), and in the presence of associated manifestations such as ataxia, epilepsy or cognitive impairment (12,13). Although pure FHM can be associated with mutations in any of the four known FHM genes, cases with pure FHM or SHM often have a negative screening.…”

mentioning

confidence: 91%

“…Mutations in CACNA1A and ATP1A2 seem to account for the majority of cases running in large families and also for the majority of earlyonset SHM cases (12,13). SCN1A and PRRT2 are more rarely implicated.…”

mentioning

confidence: 99%

“…In the absence of functional studies that are not routinely feasible, the identification of a novel missense mutation will often leave the question whether the mutation is disease causing or a non-pathogenic variant. In SHM, analyzing both parents can prove that the variant is a de novo mutation, which is most likely pathogenic (12). The study by Weller et al (5) clearly details the methods permitting a conclusion that a novel inherited missense mutation is most likely pathogenic.…”

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confidence: 99%

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Familial hemiplegic migraine: A model for the genetic studies of migraine

Ducros

2014

Cephalalgia

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MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells

Jing

Zhao

et al. 2020

FEBS Open Bio

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Although 19p13.13 microdeletion syndrome has been consistently associated with intellectual disability, overgrowth, and macrocephaly, the underlying mechanisms remain unclear. MAST1, a member of the microtubule‐associated serine/threonine kinase family, has been suggested as a potential candidate gene responsible for neurologic abnormalities in 19p13.13 microdeletion syndrome, but its role in nervous system development remains to be elucidated. Here, we investigated how MAST1 contributes to neuronal development. We report that MAST1 is upregulated during neuronal differentiation of the human neuroblastoma cell line, SH‐SY5Y. Inhibition of MAST1 expression by RNA interference attenuated neuronal differentiation of SH‐SY5Y cells. Cell cycle analyses revealed that MAST1‐depleted cells did not undergo cell cycle arrest after RA treatment. Consistent with this observation, the number of EdU‐positive cells significantly increased in MAST1 knockdown cells. Intriguingly, levels of P27, a cyclin‐dependent kinase inhibitor, were also increased during neuronal differentiation, and MAST1 knockdown reduced the expression of P27. Moreover, reduced neuronal differentiation caused by MAST1 depletion was rescued partially by P27 overexpression in SH‐SY5Y cells. Collectively, these results suggest that MAST1 influences nervous system development by affecting neuronal differentiation through P27.

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De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine

Abstract: FHM genes are involved in early-onset SHM, in particular when associated with neurologic signs. Molecular analysis can be helpful in those cases. Our study identified 14 novel de novo mutations that will help to interpret genetic tests in molecular diagnosis practice.

Cited by 115 publications

References 24 publications

The Complex Relationship Between Epilepsy and Headache and the Concept of Ictal Epileptic Headache

The Complex Relationship Between Epilepsy and Headache and the Concept of Ictal Epileptic Headache

Familial hemiplegic migraine: A model for the genetic studies of migraine

MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells

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