Results 91 to 100 of about 5,459 (165)

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation [PDF]

, 2009
Objective: To study the clinical spectrum of CACNA1A S218L mutation carriers with special attention to "early seizures and cerebral oedema after trivial head trauma (ESCEATHT)", a combination of symptoms which resembles the "juvenile head trauma syndrome"
Frants, R. R., Luijckx, G-J, Poll-Thé, B.T., Ginjaar, I. B., Stam, A. H., Ferrari, Michel D, Ferrari, M. D., van den Maagdenberg, A.M.J.M., van den Maagdenberg, A. M. J. M., Ginjaar, I.B., Haan, Joost, Terwindt, Gisela M, Frants, R.R., Poll-The, B. T., Luijckx, G.J., Haan, J., Ferrari, M.D., Terwindt, G.M., Terwindt, G. M., Luijckx, Gert Jan, Stam, Anine H, Poll-The, Bwee Tien, Luijckx, G.-J., Stam, A.H., van den Maagdenberg, Arn M J M, Ginjaar, Ieke, Frants, Rune R   +26 more
core   +1 more source

Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A Gene

, 2011
Mutations in the CACNA1A gene were described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. Familial hemiplegic migraine and episodic ataxia type 2 are caused by point mutations in the CACNA1A gene, and ...
Ata Siddiqui, Naik, Swati, Keith Pohl, Dragana Josifova, Pohl, Keith, Mohsin Malik, Josifova, Dragana, Swati Naik, Malik, Mohsin, Siddiqui, Ata   +9 more
core   +1 more source

Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

, 2008
The aim of this study was to investigate the involvement of the CACNA1A and ATP1A2 gene in a population-based sample of sporadic hemiplegic migraine (SHM). Patients with SHM (n = 105) were identified in a nationwide search in the Danish population.
Stefansson, H., Fasquel, A.C., Olesen, J., Gulcher, J., Thomsen, L.L., Oestergaard, E., Stefansson, K., Bjornsson, A.   +7 more
core   +1 more source

No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease

Movement Disorders, Volume 41, Issue 9, Page 2529-2531, September 2026.
Chia‐Ying Ko, Leon Schütz, Thomas Braun, Elena Buena‐Atienza, Nicolas Casadei, Danique Beijer, Ludger Schöls, Tobias B. Haack, Stephan Ossowski, Holger Hengel   +9 more
wiley   +1 more source

Molecular study of CACNA1A, ATP1A2, and SCN1A genes and its association with the migraine disease in Iraq

Ibom Medical Journal
Background: Migraine is a frequent and debilitating neurological ailment characterized by way of excessive complications and sensory disturbances.
Khudair S, Al Rasheed IA, Ibrahim TK, Saleh TH, Al-Rubaii BA   +4 more
doaj   +1 more source

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

Scientific Reports, 2017
Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the ...
Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Marta Vila-Pueyo, Claudio Toma, Ester Cuenca-León, Isabel Barroeta, Carles Roig, Víctor Volpini, Alfons Macaya, Bru Cormand   +11 more
doaj   +1 more source

Is there any Genetic Correlation between CACNA1A Gene and Common Migraine in Iran?

مجله دانشکده پزشکی اصفهان, 2013
Background: Familial hemiplegic migraine (FHM), a rare type of migraine with aura, is genetically heterogeneous. Involvement of CACNA1A gene is demonstrated in FHM. In the present study, we searched for 6 common mutations in CACNA1A gene in patients with
Maryam Ostadsharif, Abbas Ghorbani, Mansoor Salehi, Rokhsareh Meamar   +3 more
doaj  

The Characterization of CACNA1A-related Hemiplegic Migraine

CACNA1A-related Hemiplegic Migraine (HM) is a rare neurodevelopmental disorder characterized by paroxysmal episodes of hemiparesis/hemiplegia with or without headache.
Schaare, Donna P
core   +1 more source

Intrafamilial clinical polymorphism of CACNA1A-related disorders

CACNA1A -related disorders include developmental and epileptic encephalopathy type 42, familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 with common сombined phenotypes
A. G. Malov, T. P. Kalashnikova, O. I. Tsymbal   +2 more
core   +1 more source

AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings

Frontiers in Neurology
Epilepsy, characterized by recurrent seizures, impacts 70–80% of patients, leading to cognitive deficits. The intricate relationship between seizure control and cognitive impairment remains complex.
Vanessa I. Romero, Samantha Sáenz, Benjamín Arias-Almeida, Daniela DiCapua, Daniela DiCapua, Kazuyoshi Hosomichi   +5 more
doaj   +1 more source