Radiant Insights, Inc latest Pharmaceutical and Healthcare disease pipeline guide Infantile Spasm (West Syndrome) - Pipeline Review, H2 2016, provides an overview of the Infantile Spasm (West Syndrome) (Central Nervous System) pipeline landscape. Infantile spasms are a type of epilepsy with a characteristic age of onset (typical age when seizures start), pattern of seizures and electroencephalogram…
Infantile spasms are a type of epileptic disorder in young children characterized by flexor (34 percent), extensor (22 percent), and mixed flexor-extensor (42 percent) seizures that tend to occur in clusters or flurries (Kellaway et al., 1979). The earliest manifestations of infantile spasms can be subtle and are easily missed, making it difficult to identify the precise age at onset.
Infantile spasms comprise an infantile epileptic encephalopathy characterized by hypsarrhythmia on EEG, and frequent neurodevelopmental regression. Unfortunately the treatment of this disorder remains difficult. The first-line options which include hormonal therapy, i.e., adrenocorticotropic hormone (ACTH) or oral corticosteroids, and vigabatrin are effective in 60-70% of the patients. Hormonal therapy is considered the best available treatment. Vigabatrin being expensive and of limited availability is not a feasible option for most patients in our setting. Also, these are however associated with significant side effects, and high relapse rates. Newer drugs such as topiramate, zonisamide, and levetiracetam have also been evaluated; however these drugs are less effective than ACTH. The ketogenic diet (KD) is a high fat, low carbohydrate diet. It has been used for treatment of intractable childhood epilepsy. The KD has also been shown to be effective for intractable infantile spasms; often after ...
Epileptic spasms, also known as infantile spasms, juvenile spasms, or West syndrome is an uncommon-to-rare epileptic disorder in infants, children and adults. It is named after the English physician, William James West (1793-1848), who first described it in an article published in The Lancet in 1841. The original case actually described his own son, James Edwin West (1840-1860). Other names for it are "generalized flexion epilepsy", "infantile epileptic encephalopathy", "infantile myoclonic encephalopathy", "jackknife convulsions", "massive myoclonia" and "Salaam spasms". The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome in modern usage is the triad of infantile spasms, a pathognomonic EEG pattern (called hypsarrhythmia), and developmental regression - although the international definition requires only two out of these three elements. The syndrome is age-related, generally ...
It is believed to be the first worldwide registry of children with infantile spasms and is a collaboration between Washington University School of Medicine and the University of Chicago. Researchers at plan to use the registry to look for similarities among children with the disorder to help lead to improved treatments, said Alexander Paciorkowski, M.D., instructor of neurology and medical geneticist at the School of Medicine and at St. Louis Childrens Hospital. Although the condition was first described in the 1840s, physicians and researchers still have many questions about possible causes and effective treatments. "We need to learn more about infantile spasms, such as why some babies respond well to an injected hormone treatment and others dont, which medications are most effective in stopping spasms, what tests can help doctors decide which medication to use first and why some babies with Down Syndrome develop infantile spasms and some do not," Paciorkowski said. "We believe that the data ...
West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia, and mental retardation, although the diagnosis can be made even if 1 of the 3 elements is missing (according to the international classification). (See Presentation and Workup.
Learn About Hypsarrhythmia and Its Role in the Diagnosis and Treatment of Infantile Spasms. See Important Safety Information and Full Prescribing Information.
Djuric M, et al. Long-term outcome in children with infantile spasms treated with vigabatrin: a cohort of 180 patients. Epilepsia 2014 Dec; 55 (12): 1918-25.. Hussain SA, et al. Treatment of infantile spasms with very high dose prednisolone before high dose adrenocorticotropic hormone. Epilepsia 2014 Jan; 55(1): 103-7.. Poulat AL, et al. A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology. Eur J Paediatr Neurol. 2014 Mar; 18 92): 176-82.. Auvin S, et al. Diagnosis delay in West syndrome: misdiagnosis and consequences. Eur J Pedatric 2012 Nov; 171(11): 1695-701.. Mytinger JR, et al. The current evaluation and treatment of infantile spasms among members of the Child Neurology Society. J Child Neuro 2012 Oct; 28(10): 1289-94.. Caraballo RH, et al. Infantile spasms without hypsarrythmia: a study of 16 cases. Seizure. Apr 2011. 20(3): 197-202.. OCallaghan FJ. et al. The effect of lead time to treatment and of age of onset as evidence from the United Kingdom ...
The EEG shows hypsarrhythmia in 66% at onset, and it may be described as typical, evolving or modified, or otherwise. Currently, it is thought that even the nontypical hypsarrhythmia has the same clinical significance as true hypsarrhythmia. The report may describe high amplitude slow waves (1-7 Hz) chaotically mixed with sharp waves and spikes, and an interictal pattern showing hypsarrythmia and/or diffuse slow wave spikes at less than 3Hz and /or a burst suppression pattern ie an abnormal background. If there is some preservation of background it is called modified.. Spasms may occur without an abnormal EEG however this pattern is usually present at some time during the course of the disorder, if only in slow wave sleep ...
Low high-density cholesterol in patients with Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO) syndrome and PEHO-like patients
Infantile Spasms(IS) are a catastrophic form of epilepsy. One of the most effective medications for treating IS is Vigabatrin or Sabril ® (brand name), which recently came available as a generic in the United States. Member organizations of the Infantile Spasm Action Network (ISAN) have been hearing from families they serve that there have been recent challenges with insurance coverage and the distribution of Vigabatrin. As this and other medications become available as generics it is important to understand the impact on families struggling with seizure management. Please take the survey if you have had problems acquiring seizure medication or pass it along to someone you know who has experience difficulty ...
December 1st - December 7th is Infantile Spasms Awareness Week and medical professionals are calling on parents and caregivers to take action with four easy steps. Reports detail a very serious and difficult to diagnosis condition called infantile spasms. Officials define this condition as being a series of subtle seizures occurring in children, most often…
Jacob was diagnosed with Infantile Spasms on May 7, 2009, two days after we observed his first jacknife seizure. He was admitted to Hasbro Childrens Hospital that afternoon to begin a course of treatment with ACTH. The next day, an MRI revealed the cause of the Infantile Spasms, a stroke in utero. Two-thirds of the left hemisphere of Jacobs brain was replaced by cerebro-spinal fluid. We were discharged after four days and continued the ACTH treatment. After four weeks, the Infantile Spasms and hypsarrhythmia on his EEG were resolved but another seizure type emerged, complex partial epilepsy and myoclonic seizures ...
Jacob was diagnosed with Infantile Spasms on May 7, 2009, two days after we observed his first jacknife seizure. He was admitted to Hasbro Childrens Hospital that afternoon to begin a course of treatment with ACTH. The next day, an MRI revealed the cause of the Infantile Spasms, a stroke in utero. Two-thirds of the left hemisphere of Jacobs brain was replaced by cerebro-spinal fluid. We were discharged after four days and continued the ACTH treatment. After four weeks, the Infantile Spasms and hypsarrhythmia on his EEG were resolved but another seizure type emerged, complex partial epilepsy and myoclonic seizures ...
Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature. Here, we described 11 children, who manifested continuous epileptic spasms with various etiologies and different outcomes.Methods: This is a case series study designed to systematically review the charts, video-electroencephalography (video-EEG), magnetic resonance images, and longitudinal follow-up of patients who presented continuous epileptic spasms lasting more than 30 min.Results: Median age at onset was 2 years old, ranging from 2 months to 5.6 years. The etiology of continuous epileptic spasms for these 11 cases consisted of not only some known electro-clinical epilepsy syndromes like West Syndrome and Ohtahara Syndrome, but also secondary symptomatic continuous epileptic spasms, caused by acute encephalitis or encephalopathy, which extends the etiological spectrum of continuous epileptic spasms. The most
To evaluate the efficacy of steroid therapy in epileptic encephalopathies and refractory epilepsies other than West syndrome. Retrospective analysis of treatment and outcome data of patients treated with steroids for epileptic encephalopathies. Outco
Treatment for Lennox-Gastaut Syndrome. Find Doctors Near You, Book Appointment, Consult Online, View Doctor Fees, Address, Phone Numbers and Reviews. Doctors for Lennox-Gastaut Syndrome | Lybrate
Insulin-like growth factors play a key role for neuronal growth, differentiation, the survival of neurons and synaptic formation. The action of IGF-1 is most pronounced in the developing brain. In this paper we will try to give an answer to the following questions: Why are studies in children important? What clinical studies in neonatal asphyxia, infantile spasms, progressive encephalopathy-hypsarrhythmia-optical atrophy (PEHO) syndrome, infantile ceroid lipofuscinosis (INCL), autistic spectrum disorders (ASD) and subacute sclerosing encephalopathy (SSPE) have been carried out? What are IGF-based therapeutic strategies? What are the therapeutic approaches? We conclude that there are now great hopes for the therapeutic use of IGF-1 for some neurological disorders (particularly ASD ...
Learn about infantile spasms symptoms and the possible benefits of Sabril for infants. Important Safety Information and full Prescribing Information, including boxed warning.
-Orphan Drug Designation Granted from FDA for Epidiolex for the Treatment of IS-. LONDON, June 21, 2016-- GW Pharmaceuticals plc, a biopharmaceutical company focused on discovering, developing and commercializing novel therapeutics from its proprietary cannabinoid product platform, today announced that the Company has selected infantile spasms as the...
To examine the safety of M071754 when administered for a long time in patients with infantile spasms and also to investigate its efficacy.
/PRNewswire-USNewswire/ -- From December 1 to 7, 2016, a coalition of organizations will mark Infantile Spasms Awareness Week (ISAW). The goal of ISAW is to...
CURE foundation (Citizens United for Research in Epilepsy) (PI: Elliott Sherr, UCSF). Predictors of Neurodevelopmental and Epilepsy outcomes in cryptogenic Infantile Spasms. Goal: To identify clinical, electrographic, and genetic predictors of developmental and seizure outcomes in EPGP, the largest assembled cohort in the world with cryptogenic infantile spasms.. Role: Co-Investigator. Supplement to NIH/NINDS NS053998 (PI: Daniel L. Lowenstein, Subcontract PI: Melodie R. Winawer). Centralization of The Epilepsy Phenome/Genome Project (EPGP) Cohort. Total Direct Costs: $150,000 (one year). Goal: To centralize contact information and PHI at Columbia University for this large cohort of epilepsy participants with banked DNA to undergo sequencing via the EPI4K center without walls project.. Role: Subcontract Principal Investigator. Supplement to NIH/NINDS R01NS061991 (PI: Winawer). 3/1/13-6/30/13. Genetics of Mouse Seizure Susceptibility. Total Direct Costs: $27,699. Goal: Cryopreservation of ...
OBJECTIVE: To elucidate the biophysical basis underlying the distinct and severe clinical presentation in patients with the recurrent missense SCN1A variant, p.Thr226Met. Patients with this variant show a well-defined genotype-phenotype correlation and present with developmental and early infantile epileptic encephalopathy that is far more severe than typical SCN1A Dravet syndrome. METHODS: Whole cell patch clamp and dynamic action potential clamp were used to study T226M Nav 1.1 channels expressed in mammalian cells. Computational modeling was used to explore the neuronal scale mechanisms that account for altered action potential firing. RESULTS: T226M channels exhibited hyperpolarizing shifts of the activation and inactivation curves and enhanced fast inactivation. Dynamic action potential clamp hybrid simulation showed that model neurons containing T226M conductance displayed a left shift in rheobase relative to control. At current stimulation levels that produced repetitive action potential ...
Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. To date, fewer than 75 RDP cases have been reported worldwide. Clinical signs of pyramidal tract involvement have been reported in several RDP cases, and none of them included the Babinski sign. We report a 24-year-old Chinese female with RDP who exhibited a strikingly asymmetric, predominantly dystonic movement disorder with a rostrocaudal gradient of involvement and parkinsonism. Physical examiniations revealed hyperactive reflexes, bilateral ankle clonus and positive Babinski sign in the right. DTI showed reduced white matter integrity of the corticospinal tract in the frontal lobe and subpontine plane. Genetic testing revealed a missense mutation of the ATP1A3-gene (E277K) in the patient. We suggest that pyramidal tract impairment could be involved in rapid-onset dystonia-parkinsonism and the
TY - JOUR. T1 - Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome. AU - Orock, Albert. AU - Logan, Sreemathi. AU - Deak, Ferenc. PY - 2018/4. Y1 - 2018/4. N2 - Ohtahara syndrome, also known as type 4 of Early Infantile Epileptic Encephalopathy with suppression bursts (EIEE-4) is currently an untreatable disorder that presents with seizures and impaired cognition. EIEE-4 patients have mutations most frequently in the STXBP1 gene encoding a Sec protein, munc18-1. The exact molecular mechanism of how these munc18-1 mutations cause impaired cognition, remains elusive. The leading haploinsufficiency hypothesis posits that mutations in munc18-1 render the protein unstable leading to its degradation. Expression driven by the healthy allele is not sufficient to maintain the physiological function resulting in haploinsufficiency. The aim of this study has been to understand how munc18-1 haploinsufficiency causes cognitive ...
Infantile spasms, also called West syndrome, is a stubborn form of epilepsy that often does not get better with antiseizure drugs. Because poorly controlled infantile spasms may cause brain damage, the Hopkins teams findings suggest the diet should be started at the earliest sign that medications arent working.. "Stopping or reducing the number of seizures can go a long way toward preserving neurological function, and the ketogenic diet should be our immediate next line of defense in children with persistent infantile spasms who dont improve with medication," says senior investigator Eric Kossoff, M.D., a pediatric neurologist and director of the ketogenic diet program at Hopkins Childrens.. The ketogenic diet, made up of high-fat foods and few carbohydrates, works by triggering biochemical changes that eliminate seizure-causing short circuits in the brains signaling system. It has been used successfully in several forms of epilepsy.. A small 2002 study by the same Hopkins team showed the ...
Mutation in the HCN1 Gene Symptom Checker: Possible causes include Early Infantile Epileptic Encephalopathy Type 2. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
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Investigators from Okayama University Hospital, Japan, studied the predictive value of serial EEG findings (every 2 to 4 weeks) in relapse of epileptic spasms after synthetic ACTH therapy in patients with West syndrome (WS). EEGs were performed for more than 40 min, both awake and asleep. Thirty-nine WS patients (18 cryptogenic, and 31 symptomatic) received ACTH therapy for the first time and were followed for more than 3 years. The total duration of ACTH therapy ranged from 11 to 37 days (mean, 23.5 days). Sixteen (41%) showed seizure relapse and 23 patients (59.0%) had no seizure relapse. Immediately on completion of ACTH therapy, seizure outcome was associated with etiology (p=0.003). No seizure recurrence occurred in the cryptogenic group whereas 51.6% of the symptomatic group had recurrence of seizures. At one month after ACTH, only the presence of epileptic discharges (p=0.001) had a significant association with seizure outcome, regardless of etiology. All relapsed patients were in the ...
Let me tell you something. The treatment for infantile spasms -- the disease that I looked up in that paperback book twenty years ago -- is almost exactly the same today as it was then. The first-line treatment is ACTH, a steroid injected intra-muscularly twice a day that wreaks havoc on the immune system, and in our case, caused Sophie to scream 22 out of 24 hours and to develop such a bad case of thrush (yeast growth all over and inside her mouth and genitals) that we had to discontinue it. Oh, and it didnt stop her seizures, so we began adding drugs (8 of them, before she was a year old). I assume the side effects of ACTH are the same now as they were then and understand that one tiny vial of the shit costs upwards of $28,000. In addition to steroids, babies diagnosed with infantile spasms are also now prescribed Vigabatrin, a drug that we tried back in the dark ages of the last millenium when it was non-FDA approved. Currently, if you embark on the Vigabatrin path at any point in your ...
Lennox-Gastaut syndrome is a severe form of epilepsy that usually develops in children 4 years of age and younger. It is characterized by several seizure types and developmental delay. Tonic seizures, in which the muscle tone is greatly increased and body, arms and legs make sudden stiffening movements, is particularly common in Lennox-Gastaut syndrome. Although atonic seizures, in which there is a sudden loss of muscle tone and strength, can occur in individuals with this syndrome. Control of seizures is difficult because they are usually resistant to antiepileptic drugs. Topiramate is a drug that is currently widely used for the treatment of seizures in adults and pediatric patients (2 to 16 years of age). This is a randomized, double-blind, parallel-group, placebo-controlled study to evaluate the efficacy and safety of topiramate as an add-on therapy in patients with Lennox-Gastaut syndrome. The study is composed of two phases: baseline (28 days) and double-blind treatment (approximately 11 ...
The top three posts of 2013. The end of the year is also a good opportunity to look back at the three most popular posts this year. The most frequently read post this year was our post on SCN9A variants as modifiers in Dravet Syndrome. The interest in this post reflects the growing interest in modifier genes, and we will write more about this in early 2014. Just to let you know in advance; finding modifier genes wont be easy and is technically challenging. The second most popular post was our write-up on a classification of de novo mutations in epileptic encephalopathies. The Epi4K publication on de novo mutations in epileptic encephalopathies has put Infantile Spasms and Lennox-Gastaut Syndrome on the map. At the same time, we are confronted with a growing flood of genetic findings that we need to make sense of. This tension between increasing availability of genetic data and increasing difficulties in distinguishing signal from noise will be one of the recurring themes of 2014. Our third most ...
... is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, inclu...
Lennox-Gastaut syndrome (LGS) is a form of refractory childhood-onset epilepsy and is often accompanied by developmental delay and psychological / behavioral problems. An electroencephalogram (EEG) often shows a slow spike and wave pattern. Epi...
Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome-like phenotype. To date, fewer than 20 different mutations have been reported. So far, no clear genotype-phenotype correlation has been established. We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). Segregation analysis showed that p.Arg65Gln was inherited from the healthy father, which rules out the involvement of CDKL5 in the aetiology of the phenotype in this patient. However, the de novo occurrence was shown for p.Ala40Val and p.Leu220Pro. The p.Ala40Val mutation was observed in two unrelated patients and represented the first recurrent ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Lennox-Gastaut syndrome
I dont feel as if we have too much to update as things do seem to move relatively slow. Thurdsay night my parents returned home :( and friday morning my cousin Sara arrived around 11 am. (By the way, weve had a BLAST catching up; I told her last night as we were drifting off to sleep that I didnt think wed had a sleepover for a long time!-prekids and premarraige for sure!-and that is over 12 years) Anyhow; friday Dr. Doesher came through and told us he didnt think that Matthew has infantile spasms. His EEG along with the video spasms do not corelate together. He thinks he is having myoclonic seizures. Although I was happy to hear he didnt have infantile spasms, Dr. Doesher still cautioned me that he has a very disorganized, abnormal seizure pattern and said it may be complicated to control. He wanted to start him on Keppra, which we did on Friday and he got both HEFTY doses yesterday. Consequently, he slept most of the day (and night too). He told us we should see improvement by the ...
We arrived home from our "spring break from hell" (as Mike calls it) really late Friday night. Saturday & Sunday were spent being lazy around the house; catching up on sleep, laundry and the usual weekend to do list. Grayson was still his fussy self and there werent improvements on his symptoms. We tried to think of what was going on with him. Seizures came across our mind; so we Googled infantile spasms. Nope, not it. His symptoms didnt align with infantile spasms.. Sunday afternoon Mike was pushing to go to the ER. I didnt want to go, because wed most likely be sent home with no answers and be left with a couple thousand dollars in ER bills. To appease Mike, I called our pediatricians office and spoke to the on-call doctor. I explained Graysons symptoms and how we had seen an increase in his eye movements and were now noticing his body tremor. She asked a few questions and assured me that he wasnt having seizures. I relayed the information to Mike, which satisfied him for about an hour, ...
Eating difficulties Babies with Down syndrome often have difficulties with eating, particularly if they are born prematurely. This may be a result of low muscle tone (hypotonia) and oral muscular difficulties with coordinating sucking and swallowing. Eating problems can also be associated with other medical problems. For instance, babies with Down syndrome may also have heart problems that could cause them to tire easily, or be short of breath and not able to eat adequately. There are many methods that may help with eating problems including holding the baby in different positions while they eat, stimulating the baby to suck such as stroking their cheek, and, in bottle fed babies, trying different nipples or bottles. Sometimes the baby is not able to eat adequately despite these measures and it may be necessary to feed the baby via a naso-gastric tube for a while. This is a small, flexible tube that is passed into the nostril, down the esophagus and into the stomach. This is usually only ...
Synonyms: EFMR, Epilepsy and mental retardation limited to females, Female restricted epilepsy with intellectual deficit, Epileptic encephalopathy, early infantile, 9, EIEE9, Juberg-Hellman syndrome, Epilepsy, female restricted, with mental retardation, PCDH19-related FLE, Familial epilepsy and mental retardation limited to females, PCDH19-related infantile epileptic encephalopathy ...
Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM; European Journal of Human Genetics 22(5) pp 589-593
Information, Tools, and Resources to aid Primary Care Physicians in caring for Children with Special Health Care Needs (CSHCN) and providing a Medical Home for all of their patients.
West syndrome review articleReview article the economic impact of the irritable&hellip... powered by Peatix : More than a ticket.
General overview. There is no comprehensive overview of SCN2A phenotypes available to date, and the full spectrum of neurodevelopmental disorders due to variants in this gene is not fully understood. Based on current understanding of the literature, we can breakdown the SCN2A phenotypes into four different groups including (1) benign neonatal or infantile epilepsies, (2) neurodevelopmental/neuropsychiatric disorders, including schizophrenia, autism and intellectual disability, (3) Infantile Spasms, and (4) early onset epileptic encephalopathies, including Ohtahara syndrome, Dravet syndrome, West syndrome and severe neonatal epilepsies. All phenotypes within the SCN2A spectrum can be conceptualized along three dimensions including (a) cognitive outcome, (b) seizures, and (c) movement disorders. Here are the main phenotypes of this spectrum, given in historical order.. Benign familial neonatal/infantile seizures (BFNIS). The familial syndrome of benign familial neonatal/infantile seizures was the ...
PEHO syndrome (Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy) is an autosomal recessive disorder leading to profound psychomotor retardation. The etiology and pathogenesis of the syndrome are unknown. The main clinical findings are severe hypotonia, brisk reflexes, convulsions, profound psychomotor retardation, subcutaneous edema, and absence or early loss of visual fixation. The nature of the syndrome is progressive and most patients die before the age of 15 years.
Genetic epileptic encephalopathies are a rather wide spectrum of childhood epilepsies with onset of epilepsy in the first 1.5-2 years of life, regression or del...
Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase Like 5. Serine/Threonine Kinases (STKs), Cyclin-dependent protein kinase like 5 (CDKL5) subfamily, catalytic (c) domain. STKs catalyze the transfer of the gamma-phosphoryl group from ATP to serine/threonine residues on protein substrates. The CDKL5 subfamily is part of a larger superfamily that includes the catalytic domains of other protein STKs, protein tyrosine kinases, RIO kinases, aminoglycoside phosphotransferase, choline kinase, and phosphoinositide 3-kinase. CDKs belong to a large family of STKs that are regulated by their cognate cyclins. Together, they are involved in the control of cell-cycle progression, transcription, and neuronal function. Mutations in the gene encoding CDKL5, previously called STK9, are associated with early onset epilepsy and severe mental retardation [X-linked infantile spasm syndrome (ISSX) or West syndrome]. In addition, CDKL5 mutations also sometimes cause a phenotype similar to ...
This time next year, an investigational drug hailed as a breakthrough in the science of cannabidiol could be prescribed to children suffering from treatment-resistant epilepsy.. The prospect of its success, however, has caused some unease in the American hemp industry.. London-based GW Pharmaceuticals plc is steering its proprietary Epidiolex oral solution through the U.S. Food and Drug Administrations approval pipeline.. Unlike other FDA-approved drugs that emulate the properties of THC, the psychoactive component of cannabis, Epidiolex (eh-pih-DYE-uh-lehx) utilizes another of the plants compounds: non-psychoactive cannabidiol. GWs pharmaceutical formulation of purified CBD is targeted for treating rare, early onset seizure disorders including Dravet and Lennox-Gastaut syndromes, as well as Tuberous Sclerosis Complex and Infantile Spasms.. The company is expected to wrap up its New Drug Application to the FDA in the coming weeks; the federal agency could conduct its Good Manufacturing ...