|
Benign Familial Infantile Epilepsy
Benign familial infantile epilepsy (BFIE) is an epilepsy syndrome. Affected children, who have no other health or developmental problems, develop seizures during infancy. These seizures have focal origin within the brain but may then spread to become generalised seizures. The seizures may occur several times a day, often grouped in clusters over one to three days followed by a gap of one to three months. Treatment with anticonvulsant drugs is not necessary but they are often prescribed and are effective at controlling the seizures. This form of epilepsy resolves after one or two years, and appears to be completely benign. The EEG of these children, between seizures, is normal. The brain appears normal on MRI scan. A family history of epilepsy in infancy distinguishes this syndrome from the non-familial classification (see benign infantile epilepsy), though the latter may be simply sporadic cases of the same genetic mutations. The condition is inherited with an autosomal dominant t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurology
Neurology (from , "string, nerve" and the suffix wikt:-logia, -logia, "study of") is the branch of specialty (medicine) , medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the nervous system, which comprises the Human brain, brain, the spinal cord and the peripheral nervous system , peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system, using various techniques of neurotherapy. IEEE Brain (2019). "Neurotherapy: Treating Disorders by Retraining the Brain". ''The Future Neural Therapeutics White Paper''. Retrieved 23.01.2025 from: https://brain.ieee.org/topics/neurotherapy-treating-disorders-by-retraining-the-brain/#:~:text=Neurotherapy%20trains%20a%20patient's%20brain,wave%20activity%20through%20positive%20reinforcement International Neuromodulation Society, Retrieved 23 January 2025 from: https://www.neuromodulation.com/ Val Danilov I (2023). "The O ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, Brain tumor, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infancy
In common terminology, a baby is the very young offspring of adult human beings, while infant (from the Latin word ''infans'', meaning 'baby' or 'child') is a formal or specialised synonym. The terms may also be used to refer to juveniles of other organisms. A newborn is, in colloquial use, a baby who is only hours, days, or weeks old; while in medical contexts, a newborn or neonate (from Latin, ''neonatus'', newborn) is an infant in the first 28 days after birth (the term applies to premature, full term, and postmature infants). Infants born prior to 37 weeks of gestation are called "premature", those born between 39 and 40 weeks are "full term", those born through 41 weeks are "late term", and anything beyond 42 weeks is considered "post term". Before birth, the offspring is called a fetus. The term ''infant'' is typically applied to very young children under one year of age; however, definitions may vary and may include children up to two years of age. When a human chi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Focal Seizures
Focal seizures are seizures that originate within brain networks limited to one hemisphere of the brain. In most cases, each seizure type has a consistent site of onset and characteristic patterns of spread, although some individuals experience more than one type of focal seizure arising from distinct networks. Seizure activity may remain localized or propagate to the opposite hemisphere. Symptoms will vary according to where the seizure occurs. When seizures occur in the frontal lobe, the patient may experience a wave-like sensation in the head. When seizures occur in the temporal lobe, a feeling of déjà vu may be experienced. When seizures are localized to the parietal lobe, a numbness or tingling may occur. With seizures occurring in the occipital lobe, visual disturbances or hallucinations have been reported. , E ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anticonvulsant
Anticonvulsants (also known as antiepileptic drugs, antiseizure drugs, or anti-seizure medications (ASM)) are a diverse group of pharmacological agents used in the treatment of epileptic seizures. Anticonvulsants are also used in the treatment of bipolar disorder and borderline personality disorder, since many seem to act as mood stabilizers, and for the treatment of neuropathic pain. Anticonvulsants suppress the uncontrolled and excessive firing of neurons during seizures and in doing so can also prevent the spread of the seizure within the brain. Conventional antiepileptic drugs have diverse mechanisms of action but many block sodium channels or enhance γ-aminobutyric acid ( GABA) function. Several antiepileptic drugs have multiple or uncertain mechanisms of action. Next to voltage-gated sodium channels and components of the GABA system, their targets include GABAA receptors, the GABA transporter type 1, and GABA transaminase. Additional targets include voltage-gate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Benign Infantile Epilepsy
Benign infantile epilepsy (BIE), also known as benign infantile seizures (BIS), is an epilepsy syndrome of which several forms have been described. The International League Against Epilepsy (ILAE) classify two main forms of the syndrome (familial and nonfamilial) though several other forms have been described in the academic literature. Affected children, who have no other health or developmental problems, develop seizures during infancy. These seizures have focal origin within the brain but may then spread to become generalized seizures. The seizures may occur several times a day, often grouped in clusters over one to three days followed by a gap of one to three months. Treatment with anticonvulsant drugs is not necessary but they are often prescribed and are effective at controlling the seizures. Sodium channel blockers in particular have been shown to be effective for benign infantile epilepsy. This form of epilepsy resolves after one or two years, and appears to be completely ben ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, 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 Heredity, 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 Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infantile Convulsions And Choreoathetosis
Infantile convulsions and choreoathetosis (ICCA) syndrome is a neurological genetic disorder with an autosomal dominant mode of inheritance. It is characterized by the association of benign familial infantile epilepsy (BIFE) at age 3–12 months and later in life with paroxysmal kinesigenic choreoathetosis. The ICCA syndrome was first reported in 1997 in four French families from north-western France and provided the first genetic evidence for common mechanisms shared by benign infantile seizures and paroxysmal dyskinesia. The epileptic origin of PKC has long been a matter of debates and PD have been classified as reflex epilepsies. Indeed, attacks of PKC and epileptic seizures have several characteristics in common, they both are paroxysmal in presentation with a tendency to spontaneous remission, and a subset of PKC responds well to anticonvulsants. This genetic disease has been mapped to chromosome 16p-q12. More than 30 families with the clinical characteristics of ICCA syndrome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paroxysmal Kinesigenic Choreoathetosis
Paroxysmal kinesigenic dyskinesia (PKD), also called paroxysmal kinesigenic choreoathetosis (PKC), is a rare hyperkinetic movement disorder of the paroxysmal dyskinesias characterized by attacks ( paroxysms) of involuntary movements, which are triggered by sudden voluntary movements. The number of attacks can increase during puberty and decrease in a person's 20s to 30s. Involuntary movements can take many forms such as ballism, chorea or dystonia and usually only affect one side of the body or one limb in particular. There are two types of PKD, primary and secondary. Primary PKD can be further broken down into familial and sporadic. Familial PKD, which means the individual has a family history of the disorder, is more common, but sporadic cases are also seen. Secondary PKD can be caused by many other medical conditions such as multiple sclerosis (MS), stroke, pseudohypoparathyroidism, hypocalcemia, hypoglycemia, hyperglycemia, central nervous system trauma, or peripheral ner ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PRRT2
Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the ''PRRT2'' gene. Structure and tissue distribution This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Clinical significance Mutations in this gene are associated with a number of movement disorders, most commonly paroxysmal kinesigenic dyskinesia where approximately 1/3 of cases will harbor mutations in ''PRRT2''. It has also been associated with episodic ataxia Ataxia (from Greek α- negative prefix+ -τάξις rder= "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in e ...s, and in particular in combination with various types of epilepsy. Mutations in ''PRRT2'' lead also to hemiplegic migr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Hemiplegic Migraine
Familial hemiplegic migraine (FHM) is an autosomal dominant type of hemiplegic migraine that typically includes weakness of half the body which can last for hours, days, or weeks. It can be accompanied by other symptoms, such as ataxia, coma, and paralysis. Migraine attacks may be provoked by minor head trauma. Some cases of minor head trauma in patients with hemiplegic migraine can develop into delayed cerebral edema, a life-threatening medical emergency. Clinical overlap occurs in some FHM patients with episodic ataxia type 2 and spinocerebellar ataxia type 6, benign familial infantile epilepsy, and alternating hemiplegia of childhood. Three genetic loci for FHM are known. FHM1, which accounts for about 50% of FHM patients, is caused by mutations in a gene coding for the P/Q-type calcium channel α subunit, '' CACNA1A''. FHM1 is also associated with cerebellar degeneration. FHM2, which accounts for less than 25% of cases, is caused by mutations in the /-ATPase gene ''ATP ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Benign Familial Neonatal Epilepsy
Benign familial neonatal seizures (BFNS), also referred to as benign familial neonatal epilepsy (BFNE), is a rare autosomal dominant inherited form of seizures. This condition manifests in newborns as brief and frequent episodes of tonic-clonic seizures with asymptomatic periods in between. Characteristically, seizure activity spontaneously ends during infancy and does not affect childhood development. However, some studies have reported that a minority of children with BFNS consequently develop intellectual disability. Additionally, BFNS increases lifetime susceptibility to seizures as approximately 14% of those afflicted go on to develop epilepsy later in life. There are three known genetic causes of BFNE, two being the voltage-gated potassium channels KCNQ2 (BFNC1) and KCNQ3 (BFNC2) and the third being a chromosomal inversion (BFNC3). There is no obvious correlation between most of the known mutations and clinical variability seen in BFNE. Signs and symptoms BFNS often present ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
