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Lafora disease is a rare, adult-onset and autosomal recessive genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin. Lafora disease is also a neurodegenerative disease that causes impairment in the development of brain (cerebral) cortical neurons and is a glycogen metabolism disorder.
A headache is often present in patients with epilepsy. If the headache occurs in the vicinity of a seizure, it is defined as peri-ictal headache, which can occur either before (pre-ictal) or after (post-ictal) the seizure, to which the term ictal refers. An ictal headache itself may or may not be an epileptic manifestation. In the first case, it is defined as ictal epileptic headache or simply epileptic headache. It is a type of pain seizure that can remain isolated or be followed by other manifestations of the seizure. On the other hand, a ictal non-epileptic headache is a headache that occurs during a seizure but it is not due to an epileptic mechanism. When the headache does not occur in the vicinity of a seizure, it is defined as inter-ictal headache. In the case it's a disorder separate from epilepsy, it's a comorbidity.
MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome.
Chorea-acanthocytosis is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.
An aura is a perceptual disturbance experienced by some with epilepsy or migraine. An epileptic aura is actually a minor seizure.
Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.
Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity, it can be categorized as myoclonic seizure. If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered.
2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated levels of hydroxyglutaric acid in one's urine. It is either autosomal recessive or autosomal dominant.
Adenylosuccinate lyase deficiency is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside and succinyladenosine (S-Ado) in cerebrospinal fluid, urine. These two succinylpurines are the dephosphorylated derivatives of SAICA ribotide (SAICAR) and adenylosuccinate (S-AMP), the two substrates of adenylosuccinate lyase (ADSL), which catalyzes an important reaction in the de novo pathway of purine biosynthesis. ADSL catalyzes two distinct reactions in the synthesis of purine nucleotides, both of which involve the β-elimination of fumarate to produce aminoimidazole carboxamide ribotide (AICAR) from SAICAR or adenosine monophosphate (AMP) from S-AMP.
Pallister–Hall syndrome (PHS) is a rare genetic disorder that affects various body systems. The main features are a non-cancerous mass on the hypothalamus and extra digits (polydactylism). The prevalence of Pallister-Hall Syndrome is unknown; about 100 cases have been reported in publication.
Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. The condition affects both males and females, has been described in various countries and ethnic groups around the world, and occurs in approximately 1 in 50,000–100,000 births.
Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome. The syndrome is associated with epileptic seizures, behaviour disorders and intellectual disability.
Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED).
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.
Sleep-related hypermotor epilepsy (SHE), previously known as nocturnal frontal lobe epilepsy, is a form of focal epilepsy characterized by seizures which arise during sleep. The seizures are most typically characterized by complex motor behaviors. It is a relatively uncommon form of epilepsy that constitutes approximately 9-13% of cases. This disorder is associated with cognitive impairment in at least half of patients as well as excessive daytime sleepiness due to poor sleep quality. This disorder is sometimes misdiagnosed as a non-epileptic sleep disorder. There are many potential causes of SHE including genetic, acquired injuries and structural abnormalities.
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 have been described worldwide so far.
Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominantly females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally accompanied by varying degrees of cognitive impairment. The striking pattern of onset seizures at a young age, genetic testing and laboratory results, potential developmental delays or developmental regression and associated disorders, eases diagnosis.
SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. Symptoms include intellectual disability, epilepsy, autism, sensory processing deficits, hypotonia and unstable gait.
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a very rare genetic disorder which is characterized by myoclonic epilepsy and ataxia.
SLC13A5 citrate transporter disorder, or SLC13A5 Epilepsy, is a rare genetic spectrum disorder that presents with neurological symptoms. Symptoms include severe seizures, ataxia, dystonia, teeth hypoplasia, poor communication skills, difficulty standing or walking, as well as developmental delay. Other names associated with SLC13A5 Epilepsy include SLC13A5 Citrate Transporter Disorder, Citrate Transporter Disorder, SLC13A5 Deficiency, Early Infantile Epilepsy Encephalopathy 25 (EIEE25), Developmental Epilepsy Encephalopathy 25 (DEE25), and Kohlschutter-Tonz Syndrome (non-ROGDI).
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant epilepsy with auditory features". www.orpha.net. Retrieved 2022-05-14.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ↑ "AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES". www.epilepsydiagnosis.org. Retrieved 2022-05-14.
- ↑ "Autosomal dominant partial epilepsy with auditory features". NORD (National Organization for Rare Disorders). Retrieved 2022-05-14.
- 1 2 3 "Autosomal dominant partial epilepsy with auditory features: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-05-14.
- 1 2 Michelucci, Roberto; Nobile, Carlo (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Autosomal Dominant Epilepsy with Auditory Features", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301709 , retrieved 2022-05-14
- 1 2 3 Bisulli, F.; Tinuper, P.; Avoni, P.; Striano, P.; Striano, S.; d’Orsi, G.; Vignatelli, L.; Bagattin, A.; Scudellaro, E.; Florindo, I.; Nobile, C. (2004-06-01). "Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases". Brain. 127 (6): 1343–1352. doi: 10.1093/brain/awh151 . ISSN 0006-8950. PMID 15090473.
- ↑ "Autosomal dominant partial epilepsy with auditory features - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-14.
- ↑ Furia, Alessandro; Licchetta, Laura; Muccioli, Lorenzo; Ferri, Lorenzo; Mostacci, Barbara; Mazzoni, Stefania; Menghi, Veronica; Minardi, Raffaella; Tinuper, Paolo; Bisulli, Francesca (2022). "Epilepsy With Auditory Features: From Etiology to Treatment". Frontiers in Neurology. 12: 807939. doi: 10.3389/fneur.2021.807939 . ISSN 1664-2295. PMC 8829259 . PMID 35153984.
- ↑ Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Palombo, Flavia; Menghi, Veronica; D'Aurizio, Romina; Leta, Chiara; Stipa, Carlotta; Boero, Giovanni; d'Orsi, Giuseppe; Magi, Alberto (2015-06-01). "Epilepsy with auditory features: A heterogeneous clinico-molecular disease". Neurology: Genetics. 1 (1): e5. doi:10.1212/NXG.0000000000000005. ISSN 2376-7839. PMC 4821078 . PMID 27066544.