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Ohtahara Syndrome
Ohtahara syndrome (OS), also known as early infantile epileptic encephalopathy (EIEE) is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life, and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG). It is an extremely debilitating progressive neurological disorder, involving intractable seizures and severe intellectual disabilities. No single cause has been identified, although in many cases structural brain damage is present. Presentation Ohtahara syndrome is rare and the earliest-appearing age-related epileptic encephalopathy, with seizure onset occurring within the first three months of life, and often in the first ten days. Many, but not all, cases of OS evolve into other seizure disorders, namely West syndrome and Lennox-Gastaut syndrome. The primary outward manifestation of OS is seizures, usually presenting as tonic seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Progressive Illness
Progressive disease or progressive illness is a disease or physical ailment whose course in most cases is the worsening, growth, or spread of the disease. This may happen until death, serious debility, or organ failure occurs. Some progressive diseases can be halted and reversed by treatment (surgical, dietary, or lifestyle interventions). Many can be slowed by medical therapy. Some cannot be altered by current treatments. Though the time distinctions are imprecise, diseases can be ''rapidly progressive'' (typically days to weeks) or ''slowly progressive'' (months to years). The time course of a disease affects whether it is considered acute or chronic. By definition, virtually all slowly progressive diseases are also chronic diseases. Biologically, many of these are also referred to as degenerative diseases due to the cellular changes. Not all chronic diseases are progressive: a chronic, non-progressive disease may be referred to as a ''static'' condition. ''Progressive dise ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetraplegia
Tetraplegia, also known as quadriplegia, is defined as the dysfunction or loss of motor and/or sensory function in the cervical area of the spinal cord. A loss of motor function can present as either weakness or paralysis leading to partial or total loss of function in the arms, legs, trunk, and pelvis; paraplegia is similar but affects the thoracic, lumbar, and sacral segments of the spinal cord and arm function is spared. The paralysis may be flaccid or spastic. A loss of sensory function can present as an impairment or complete inability to sense light touch, pressure, heat, pinprick/pain, and proprioception. In these types of spinal cord injury, it is common to have a loss of both sensation and motor control. Signs and symptoms Although the most obvious symptom is impairment of the limbs, functioning is also impaired in the trunk and pelvic organs. This can lead to loss or impairment of controlling bowel and bladder, sexual function, digestion, breathing and other auton ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KCNQ2
Kv7.2 (KvLQT2) is a voltage- and lipid-gated potassium channel protein coded for by the gene KCNQ2. It is associated with benign familial neonatal epilepsy. Function The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. Ligands * ICA-069673: channel opener at KCNQ2/ Q3, 20-fold selective over KCNQ3/ Q5, no measurable activity against a panel of cardiac ion chann ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPTAN1
Alpha II-spectrin, also known as Spectrin alpha chain, brain is a protein that in humans is encoded by the ''SPTAN1'' gene. Alpha II-spectrin is expressed in a variety of tissues, and is highly expressed in cardiac muscle at Z-disc structures, costameres and at the sarcolemma membrane. Mutations in alpha II-spectrin have been associated with early infantile epileptic encephalopathy-5, and alpha II-spectrin may be a valuable biomarker for Guillain–Barré syndrome and infantile congenital heart disease. Structure Alternate splicing of alpha II-spectrin has been documented and results in multiple transcript variants; specifically, cardiomyocytes have four identified alpha II-spectrin splice variants. As opposed to alpha I-spectrin that is principally found in erythrocytes, alpha II-spectrin is expressed in most tissues. In cardiac tissue, alpha II-spectrin is found in myocytes at Z-discs, costameres, and the sarcolemma membrane, and in cardiac fibroblasts along the surface of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STXBP1
Syntaxin-binding protein 1 (also known as Munc18-1) is a protein that in humans is encoded by the ''STXBP1'' gene. This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with neurological disorders including epilepsy, intellectual disability, and movement disorders. Structure The ''STXBP1'' gene is located on the q arm of chromosome 9 in position 34.11 and has 20 exons spanning 80,510 base pairs. The encoded protein is a peripheral membrane protein located in the cytosol. In the retina and cerebellum, an alternatively spliced transcript variant is expressed, containing an additional exon and totaling 603 amino acids. Alternative splicing can produce an isoform with exon 19 and an isoform without.Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: : : . ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Solute Carrier Family 25 (Mitochondrial Carrier, Glutamate), Member 22
In chemistry, a solution is a special type of homogeneous mixture composed of two or more substances. In such a mixture, a solute is a substance dissolved in another substance, known as a solvent. If the attractive forces between the solvent and solute particles are greater than the attractive forces holding the solute particles together, the solvent particles pull the solute particles apart and surround them. These surrounded solute particles then move away from the solid solute and out into the solution. The mixing process of a solution happens at a scale where the effects of chemical polarity are involved, resulting in interactions that are specific to solvation. The solution usually has the state of the solvent when the solvent is the larger fraction of the mixture, as is commonly the case. One important parameter of a solution is the concentration, which is a measure of the amount of solute in a given amount of solution or solvent. The term " aqueous solution" is used wh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDKL5
CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development. Mutations in the gene can cause deficiencies in the protein. The gene regulates neuronal morphology through cytoplasmic signaling and controlling gene expression. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. Researchers are currently working to determine which proteins are targeted by the CDKL5 protein. Mutations Mutations in the CDKL5 gene cause CDKL5 deficiency disorder. CDKL5 Deficiency had been thought of as a variant of Rett's Syndrome due to some similarities in the clinical presentation, but it is now known to be an independent clinical entity caused by mutations in a distinct X-linked gene, and is considered separate from Rett Sy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aristaless Related Homeobox
Aristaless related homeobox is a protein that in humans is encoded by the ''ARX'' gene. Function This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development. Clinical significance Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice). See also * homeobox A homeobox is a DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. For instance, mutations in a homeobox may change large-scale anatomical features of the full- ... References Further reading * * * * * * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aicardi Syndrome
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. Other malformations of the brain and skeleton may also occur. The syndrome includes intellectual disability that is usually severe or moderate. So far, the syndrome has only been diagnosed in girls and in boys with two X chromosomes (Klinefelter syndrome). Those with Aicardi syndrome are in need of various specialist and habilitation instances. Epilepsy is treated with medication, but additional treament may also be needed. In order to utilize the girls' eyesight and investigate the need for visual aids, examination by ophthalmologist is indicated early in life. Problems from the gastrointestinal tract are frequent. In adulthood, continued habilitation efforts and support in daily life are needed. The syndrome is named after th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Porencephaly
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere.Parker, J. (2004). The official parent's sourcebook on porencephaly: A revised and updated directory for the internet age. ICON Health Publications. Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain. Derived from Greek roots, the word ''porencephaly'' means 'holes in the brain'. The cysts and cavities (cystic brain lesions) are more likely to be the result of destructive (encephaloclastic) cause, but can also be from abnormal development (malformative), direct damage, inflammation, or hemorrhage. The cysts and cavities cause a wide range of physiological, physical, and neurological symptoms. Depending on the patient, this disorder may cause only minor neurological problems, without any disruption of intelligence, while others may be severely dis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemimegalencephaly
Hemimegalencephaly (HME), or unilateral megalencephaly, is a rare congenital disorder affecting all or a part of a cerebral hemisphere. It causes severe seizures, which are often frequent and hard to control. A minority might have seizure control with medicines, but most will need removal or disconnection of the affected hemisphere as the best chance. Uncontrolled, they often cause progressive intellectual disability and brain damage and stop development. Symptoms and signs Seizures are the main symptom. There can be as many as hundreds of seizures a day. Seizures tend to begin soon after birth, but may sometimes commence during later infancy or, rarely, during early childhood. Other symptoms * Asymmetrical or enlarged head * Developmental delay * Progressive weakness of half the body * Progressive blindness of half the body Genetics Somatic activation of ''AKT3'' causes hemispheric developmental brain malformations. Pathophysiology It is a disorder related to excessive neur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
