Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation

Cephalalgia ◽  
2008 ◽  
Vol 28 (7) ◽  
pp. 774-777 ◽  
Author(s):  
A Lebas ◽  
L Guyant-Maréchal ◽  
D Hannequin ◽  
F Riant ◽  
E Tournier-Lasserve ◽  
...  
Keyword(s):  
Epileptic Seizures ◽  
Familial Hemiplegic Migraine ◽  
Absence Epilepsy ◽  
Childhood Epilepsy ◽  
Childhood Absence Epilepsy ◽  
Severe Attack ◽  
Hemiplegic Migraine ◽  
New Mutation ◽  
Atp1a2 Gene ◽  
Clonic Seizures

We studied four members of a family suffering from typical attacks of familial hemiplegic migraine (FHM) caused by a new mutation, R548C, of ATP1A2 gene in exon 12. One individual had also childhood absence epilepsy and generalized tonic-clonic seizures (GTCS). GTCS were followed by a severe attack of hemiplegic migraine at four times. Sodium valproate enabled control of both the epileptic seizures and the most severe FHM attacks. This association of FHM and epileptic seizures and their control with the same treatment suggest similar pathophysiological mechanisms.

scholarly journals Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene

Cephalalgia ◽  
2013 ◽  
Vol 34 (3) ◽  
pp. 183-190 ◽  
Author(s):  
Christian Roth ◽  
Tobias Freilinger ◽  
Georgi Kirovski ◽  
Juliane Dunkel ◽  
Yogesh Shah ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Clinical Symptoms ◽  
Novel Mutation ◽  
Epileptic Seizures ◽  
Familial Hemiplegic Migraine ◽  
Type Ii ◽  
Single Patient ◽  
Hemiplegic Migraine ◽  
Atp1a2 Gene

Introduction Familial hemiplegic migraine (FHM) is a rare subtype of migraine with transient hemiplegic aura. Patients and methods We describe three unrelated families with familial hemiplegic migraine type II (FHM2). Retrospectively, information on 47 family members could be obtained, 15 by personal examination and 32 by indirect anamnesis from relatives. Genetic analyses were performed in 13 patients. Results One family had a novel missense mutation in the ATP1A2 gene (c.659C>T, p.Ser220Leu) that segregated with the phenotype in three generations. Two further unrelated families with different ethnic backgrounds (one from Germany and one from Russia) had a missense mutation that has not been described as yet in FHM, but occurred in only a single patient with sporadic hemiplegic migraine (c.2723G>A, p.Arg908Gln). Clinically the patients had severe attacks lasting up to several weeks as well as epileptic seizures. Three patients with a proven mutation in the ATP1A2 gene clinically presented without hemiparesis. Furthermore, there was a possible relation of FHM2 to mental retardation in another two patients. Conclusion Clinical symptoms may last for several weeks in some patients. Patients with FHM2 may also present without hemiplegia. Therefore, the full family history has to be taken into account to establish the diagnosis of FHM.

Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions

Cephalalgia ◽  
2019 ◽  
Vol 39 (10) ◽  
pp. 1333-1338 ◽  
Author(s):  
Antonio de Iure ◽  
Petra Mazzocchetti ◽  
Guendalina Bastioli ◽  
Barbara Picconi ◽  
Cinzia Costa ◽  
...  
Keyword(s):  
Synaptic Plasticity ◽  
Long Term Potentiation ◽  
Familial Hemiplegic Migraine ◽  
Loss Of Function ◽  
Hemiplegic Migraine ◽  
Term Potentiation ◽  
Atp1a2 Gene ◽  
Ca1 Area ◽  
Reduced Rate

Introduction Familial hemiplegic migraine 2 is a pathology linked to mutation of the ATP1A2 gene producing loss of function of the α2 Na+/K+-ATPase (NKA). W887R/+ knock-in (KI) mice are used to model the familial hemiplegic migraine 2 condition and are characterized by 50% reduced NKA expression in the brain and reduced rate of K+ and glutamate clearance by astrocytes. These alterations might, in turn, produce synaptic changes in synaptic transmission and plasticity. Memory and learning deficits observed in familial hemiplegic migraine patients could be ascribed to a possible alteration of hippocampal neuronal plasticity and measuring possible changes of long-term potentiation in familial hemiplegic migraine 2 KI mice might provide insights to strengthen this link. Results Here we have investigated synaptic plasticity in distinct hippocampal regions in familial hemiplegic migraine 2 KI mice. We show that the dentate gyrus long-term potentiation of familial hemiplegic migraine 2 mice is abnormally increased in comparison with control animals. Conversely, in the CA1 area, KI and WT mice express long-term potentiation of similar amplitude. Conclusions The familial hemiplegic migraine 2 KI mice show region-dependent hippocampal plasticity abnormality, which might underlie some of the memory deficits observed in familial migraine.

scholarly journals Polyspike and Waves Do Not Predict Generalized Tonic-Clonic Seizures in Childhood Absence Epilepsy

2010 ◽  
Vol 25 (4) ◽  
pp. 475-481 ◽  
Author(s):  
Esther Vierck ◽  
Ryan Cauley ◽  
Steven L. Kugler ◽  
David E. Mandelbaum ◽  
Deb K. Pal ◽  
...  
Keyword(s):  
Absence Epilepsy ◽  
Childhood Absence Epilepsy ◽  
Clonic Seizures

A long-term follow-up study of 18 patients with sporadic hemiplegic migraine

Cephalalgia ◽  
2010 ◽  
Vol 31 (2) ◽  
pp. 199-205 ◽  
Author(s):  
Anine H Stam ◽  
Mark A Louter ◽  
Joost Haan ◽  
Boukje de Vries ◽  
Arn MJM van den Maagdenberg ◽  
...  
Keyword(s):  
Familial Hemiplegic Migraine ◽  
Initial Diagnosis ◽  
Hemiplegic Migraine ◽  
Optimal Care ◽  
Follow Up Study ◽  
Long Term Follow Up ◽  
Atp1a2 Gene ◽  
Long Term Prognosis

Objective: Our objective was to study the long-term prognosis of sporadic hemiplegic migraine (SHM). Methods: We performed a longitudinal follow-up study in 18 patients who were diagnosed with SHM between 1993 and 1996. Follow-up time between the first and second survey ranged from nine to 14 years. These patients were included as part of a genetic study in which we systematically analysed the role of the three known familial hemiplegic migraine (FHM) genes. Results: In 12 out of 18 patients the clinical diagnosis was unchanged. In two of the six remaining patients the attacks were no longer associated with hemiplegia; one of them had an ATP1A2 gene mutation (E120A). In the four other patients, the diagnosis changed into FHM, because a family member had developed hemiplegic migraine since the initial diagnosis was made. In two of the four patients a mutation was demonstrated ( CACNA1A [R583Q] and ATP1A2 [R834X]). Conclusion: This study shows that the diagnosis of SHM changes into FHM in a considerable percentage of patients (22% [4 of 18]), almost a decade after the initial diagnosis. This indicates that a careful follow-up of SHM patients and their families is advisable for optimal care and counseling. Diagnostic screening of FHM genes in SHM patients can be of value. Our genetic and clinical follow-up studies reinforce the evidence that FHM and SHM are part of the same spectrum of migraine.

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy

Cephalalgia ◽  
2013 ◽  
Vol 34 (1) ◽  
pp. 68-72 ◽  
Author(s):  
Cinzia Costa ◽  
Paolo Prontera ◽  
Paola Sarchielli ◽  
Alessandra Tonelli ◽  
Maria Teresa Bassi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Febrile Seizures ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Specific Symptom ◽  
Motor Weakness ◽  
Generation Family ◽  
Atp1a2 Gene ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

Background Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A, ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy. Case Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalized epilepsy with febrile seizures plus (GEFS+). Conclusions The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.

scholarly journals Familial Hemiplegic Migraine with Severe Attacks: A New Report withATP1A2Mutation

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
E. Martínez ◽  
R. Moreno ◽  
L. López-Mesonero ◽  
I. Vidriales ◽  
M. Ruiz ◽  
...  
Keyword(s):  
Ct Perfusion ◽  
Familial Hemiplegic Migraine ◽  
Sudden Onset ◽  
Normal Brain ◽  
Hemiplegic Migraine ◽  
Perfusion Study ◽  
Motor Weakness ◽  
Atp1a2 Gene ◽  
Type Headache

Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described.Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology.Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation. She presented with fever, decreased consciousness, left gaze preference, mixed aphasia, right facial palsy, right hemiplegia, and left crural paresis. Computed tomography (CT) showed no lesion and CT perfusion study evidenced oligohemia in left hemisphere. A normal brain magnetic resonance (MR) was obtained. Impaired consciousness and dysphasia began to improve three days after admission and mild dysphasia and right hemiparesis lasted for 10 days. No recurrences were reported during a follow-up of two years. We identified a variant in heterozygous state in ATP1A2 gene (p.Thr364Met), pathogenic according to different prediction algorithms (SIFT, PolyPhen2, MutationTaster, and Condel).Conclusion. Prolonged and severe attacks with diffuse hypoperfusion in a FHM seemed to be specially related to ATP1A2 mutations, and p.T364M should be considered.

Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura

Cephalalgia ◽  
2015 ◽  
Vol 36 (3) ◽  
pp. 279-283 ◽  
Author(s):  
Jakob Udby Blicher ◽  
Anna Tietze ◽  
Manus J Donahue ◽  
Seth A Smith ◽  
Leif Østergaard
Keyword(s):  
Capillary Flow ◽  
Chemical Exchange ◽  
Familial Hemiplegic Migraine ◽  
Chemical Exchange Saturation Transfer ◽  
Hemiplegic Migraine ◽  
Flow Disturbances ◽  
Atp1a2 Gene ◽  
Magnetic Resonance Imaging Mri ◽  
Suspected Stroke

Introduction To investigate tissue flow disturbance and hypoxia during migraine aura, we studied a case of familial hemiplegic migraine (FHM) using novel magnetic resonance imaging (MRI) techniques. Case results A 44-year-old male was admitted with suspected stroke because of confusion and aphasia. Initial gadolinium-based perfusion MRI showed a decrease in cerebral blood flow and an increase in capillary flow disturbances within the left hemisphere. Later during the prolonged aura phase, chemical exchange saturation transfer MRI indicated a drop in pH in the affected area. The patient was diagnosed with an R908Q mutation in the ATP1A2 gene causing FHM type 2. Discussion During prolonged aura in FHM, MRI shows reduced CBF, capillary flow disturbances and a possible pH drop that could indicate tissue hypoxia.

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