Publications by authors named "Maria E Garcia-Garcia"

Article Synopsis
  • 4H leukodystrophy is an autosomal recessive disorder linked to hypomyelination and several endocrine issues, caused by mutations in genes like POLR3A and POLR3B.
  • The study involved 150 patients and aimed to systematically assess their endocrine and growth abnormalities while exploring potential genotype/phenotype links.
  • Findings revealed that delayed puberty and short stature are common in these patients, highlighting a need for more thorough investigation of endocrine problems in this group.
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Introduction: Praxis induction (PI) is a reflex trait defined as the precipitation of epileptic discharges (ED) or seizures by cognition-guided tasks that often involve visuomotor coordination and decision-making. This is a characteristic of genetic generalized epilepsy (GGE), and especially of juvenile myoclonic epilepsy (JME). Additionally, several studies have described dysexecutive traits in these patients.

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Background: Serum concentrations of ST2 (interleukin-1 receptor-like 1) represent a meaningful prognostic marker in cardiac diseases. Production of soluble ST2 (sST2) may be partially extracardiac. Identification of sST2 sources is relevant to design strategies for modulating its signaling.

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Objective: Dysexecutive traits have been described in idiopathic generalized epilepsy (IGE), but studies mainly focused on juvenile myoclonic epilepsy (JME). To better understand the neuropsychology of IGE, more research is needed on syndromes other than JME, controlling potential confounding factors as the cognitive effects of valproate and epileptic discharges (ED). We describe the neuropsychological profile of a group of patients with different syndromes of IGE including simultaneous video electroencephalography (EEG).

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•7 of 9 patients with GGE reduced ≥ 50% their tonic-clonic seizure frequency on LCM.•All 7 patients remained seizure free for > 1 year, and 2 of them for > 5 years.•In 2 of the 9 patients, both with Juvenile Absence Epilepsy, absences aggravated.

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Perampanel, a non-competitive antagonist of the α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid receptors, is the most recent antiepileptic drug available in Spain, marketed in January 2014. It was initially approved by the European Medicines Agency as adjunctive treatment for partial-onset seizures in patients 12 years and older, but recently also for primary generalized tonic-clonic seizures. Although clinical trials provide essential information about the drug, they do not reflect daily clinical practice.

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Joubert syndrome and related disorders comprise a subgroup of ciliopathies defined by the presence of the 'molar tooth sign', a midbrain-hindbrain malformation identifiable by neuroimaging. Characteristically, the corticospinal tract and superior cerebellar peduncles do not decussate. Epileptic seizures are uncommon.

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Anti-N-methyl-D-aspartate receptor encephalitis is a severe, potentially treatable, disorder and prognosis depends on early recognition and prompt immunotherapy. We report a case of anti-N-methyl-D-aspartate receptor encephalitis with atypical age and gender, and a characteristic electroencephalographic pattern that supported the diagnosis. A 66-year-old male presented with psychiatric disturbances and focal seizures with alteration of consciousness, and progressed to a state of akinetic mutism.

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Limbic encephalitis is a condition characterised by an acute or sub-acute onset of memory disorder, associated with seizures and psychiatric manifestations. Investigations such as brain MRI usually reveal a high intensity signal in the medial temporal lobe and cerebrospinal fluid analysis shows mild pleocytosis and oligoclonal bands. It may occur in association with cancer, infection, or as an isolated clinical condition, often accompanying autoimmune disorders.

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Objective: Epicrania fugax (EF) is a primary headache of recent description. We aimed to report 19 new cases of EF, and thus contribute to the characterization of this emerging headache.

Background: EF is characterized by painful paroxysms starting in a particular area of the head, and rapidly radiating forwards or backwards through the territories of different nerves.

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Introduction: To translate and validate into Spanish (Spain) the screening instrument of major depressive episodes (MDEs), Neurological Disorders Depression Inventory in Epilepsy (NDDI-E), in patients with epilepsy.

Methods: A total of 121 outpatients, aged 18 years and older, with a diagnosis of epilepsy were included. The diagnosis of a current major depressive episode (MDE) was established with the Mini International Neuropsychiatric Interview (MINI).

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Objective: We aimed to report 6 new cases of bifocal nummular headache (NH), showing their clinical characteristics and comparing them with those formerly described.

Background: NH is a focal head pain felt in a small, well-circumscribed, coin-shaped area. Among all the reported cases (over 200), 6 patients localized their pain in 2 or more separate areas.

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