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Autosomal Dominant Partial Epilepsy With Auditory Features
Autosomal dominant partial epilepsy with auditory features syndrome is a rare, relatively benign, hereditary epileptic disorder that is characterized by seizures, seizure-associated hearing alterations and receptive aphasia. Unlike other genetic disorders, this one does not affect intellect. Signs & symptoms Symptoms of this disorder usually begin appearing in adolescence-early adulthood. People with this disorder have peculiar symptoms before and during seizures, these include: * Buzzing * Ringing * Humming * Voices * Music * Changes in the intensity/volume of sound Some people have receptive aphasia before temporarily losing consciousness to a seizure Less commonly, visual hallucinations, smell abnormalities, and/or vertigo occur before and during seizures. People with this disorder typically have triggers that ''trigger'' their seizures. But for other people, they don't have a known trigger. Fortunately for people with ADPEAF, seizures don't usually occur in a regular bas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no immediate underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms. The underlying mechanism of epileptic seizures is excessive and abnormal neuronal activity in the cortex of the brain which can be observed in the electroencephalogram (EEG) of an individual. The reason this occurs in most cases of epilepsy is u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizures
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or neural oscillation, synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness (tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness (focal seizure), to a subtle momentary loss of awareness (absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Urinary incontinence, Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aphasia
Aphasia is an inability to comprehend or formulate language because of damage to specific brain regions. The major causes are stroke and head trauma; prevalence is hard to determine but aphasia due to stroke is estimated to be 0.1–0.4% in the Global North. Aphasia can also be the result of brain tumors, brain infections, or neurodegenerative diseases (such as dementias). To be diagnosed with aphasia, a person's speech or language must be significantly impaired in one (or more) of the four aspects of communication following acquired brain injury. Alternatively, in the case of progressive aphasia, it must have significantly declined over a short period of time. The four aspects of communication are auditory comprehension, verbal expression, reading and writing, and functional communication. The difficulties of people with aphasia can range from occasional trouble finding words, to losing the ability to speak, read, or write; intelligence, however, is unaffected. Expressive lan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellect
In the study of the human mind, intellect refers to, describes, and identifies the ability of the human mind to reach correct conclusions about what is true and what is false in reality; and how to solve problems. Derived from the Ancient Greek philosophy term ''nous'', ''intellect'' derived from the Latin ''intelligere'' (“to understand”), from which derives the term ''intelligence'' in the French and English languages. The discussion of intellect is in two areas of knowledge that concern the relation between intelligence and intellect. * In classical philosophy and in medieval philosophy the intellect (''nous'') is the subject of the question: How do people know things? In Late Antiquity and in the Middle Ages, the intellect was the conceptual means of reconciling the religious faith of monotheism with the facts of philosophy and science about Nature, a reconciliation that would make the intellect the conduit between the human soul, and the divine intellect of the cosmos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vertigo
Vertigo is a condition where a person has the sensation of movement or of surrounding objects moving when they are not. Often it feels like a spinning or swaying movement. This may be associated with nausea, vomiting, sweating, or difficulties walking. It is typically worse when the head is moved. Vertigo is the most common type of dizziness. The most common disorders that result in vertigo are benign paroxysmal positional vertigo (BPPV), Ménière's disease, and labyrinthitis. Less common causes include stroke, brain tumors, brain injury, multiple sclerosis, migraines, trauma, and uneven pressures between the middle ears. Physiologic vertigo may occur following being exposed to motion for a prolonged period such as when on a ship or simply following spinning with the eyes closed. Other causes may include toxin exposures such as to carbon monoxide, alcohol, or aspirin. Vertigo typically indicates a problem in a part of the vestibular system. Other causes of dizziness incl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LGI1
Leucine-rich, glioma inactivated 1, also known as LGI1, is a protein which in humans is encoded by the ''LGI1'' gene. It may be a metastasis suppressor. Function The leucine-rich glioma inactivated -1 gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Clinical significance Since its earliest discovery, the LGI1 gene has been implicated in the control of cancer metastasis and in a predisposition to epilepsy. Following genetic linkage studies placing the hereditary form of autosomal dominant partial epilepsy with auditory features ( ADPEAF) on chromosome region 10q24 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Disorders
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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