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Tuesday, 07 January 2025

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Assuming early is required, and infantile is required, and epileptic is required, and encephalopathy is required, the following 19 results were found.

  1. Infantile Spasms Syndromehttps://cnke.org/articles/269

    Ito (incontinentia pigmenti achromiens). Neurology 45:485–492 Saitsu H et al., (2010) STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 51:2397–2405 Saporito MAN, Vitaliti G, Pavone P, Di Stefano G,...

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  2. Investigations in Epileptic Encephalopathieshttps://cnke.org/articles/321

    in 17p including LIS1 and YwaE, ARX, TUBA1A, RELN) Schizencephaly (EMX2 involved in sporadic cases) Early infantile epileptic encephalopathy type I (ARX-related EIEE1) Miller-Dieker syndrome Smith-Lemli–Opitz syndrome Disorders of amino acids metabolism...

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  3. Common Epilepsy Geneshttps://cnke.org/articles/277

    (GLUT1) GLUT1 deficiency syndrome CLCN2 Idiopathic generalized epilepsy Synaptic Function Genes STXBP1 Early infantile epileptic encephalopathy SYNGAP1 Intellectual disability and epilepsy CDKL5 Early infantile epileptic encephalopathy SYN1 X-linked...

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  4. Ohtahara syndromehttps://cnke.org/articles/177

    is a rare electroclinical epilepsy syndrome with onset in the neonatal period. It is also known as early infantile epileptic encephalopathy (EIEE) or early infantile epileptic encephalopathy with burst suppression pattern. It is named after Shunsuke...

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  5. Lennox-Gastaut Syndrome (LGS)https://cnke.org/articles/50

    Lennox-Gastaut Syndrome (LGS) was first characterized by Dr. William G. Lennox as a form of epilepsy known as a "Petit mal variant." In 1966, the Marseille School in France provided a more detailed description of the syndrome. Dr. Henri Gastaut and his...

    • Type: Article
    • Author: Editor CNKE
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  6. Alexander Diseasehttps://cnke.org/articles/253

    Alexander disease is a rare neurodegenerative disorder caused by mutations in the glial fibrillary acidic protein, a type III intermediate filament protein expressed in astrocytes. Introduction Definition: Alexander disease is a progressive disorder of...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  7. Early myoclonic encephalopathyhttps://cnke.org/articles/267

    Overview Early myoclonic encephalopathy is a syndrome characterized by: Frequent intractable seizures Severe early encephalopathy Limited development and reduced life expectancy Frequent myoclonic seizures distinguish this syndrome from Ohtahara...

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  8. Dravet syndromehttps://cnke.org/articles/180

    Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered...

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  9. Dravet syndromehttps://cnke.org/articles/265

    Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered...

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  10. early infantile epileptic encephalopathyhttps://cnke.org/topics/early-infantile-epileptic-encephalopathy

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  11. Biochemical investigations in Bloodhttps://cnke.org/articles/13

    Blood Biochemistry Test Indications Precautions Interpretation α-AASA Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up...

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  12. Biochemical investigations in Urinehttps://cnke.org/articles/167

    Urine biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic seizures (usually with suppression-burst), or later...

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  13. Investigations - Urine Biochemistryhttps://cnke.org/articles/291

    Urine Biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic seizures (usually with suppression-burst), or later pyridoxine-responsive epilepsy No need to obtain urine before giving pyridoxine or...

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  14. Classification of the Epilepsieshttps://cnke.org/articles/knowledge-maps/263

    The ILAE Classification of the Epilepsies was updated in 2017[1][2] to reflect the advances made in recent years in the understanding of the epilepsies and their pathophysiologies since the classification was last ratified in 1989[3]. The current...

    • Type: Article
    • Author: Editor CNKE
    • Category: Knowledge Maps

  15. GABRB3 Mutationshttps://cnke.org/articles/152

    of such disorders is not yet well known Mutations in GABRB3 are emerging as a significant cause of early infantile epileptic encephalopathy (EIEE), a severe developmental and epileptic encephalopathy. GABA-A Receptor: Structure and Function Composition:...

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  16. Glycosylphosphatidylinositol (GPI) Anchor and Glycosphingolipid (GSL) Related Disordershttps://cnke.org/articles/476

    Introduction to Glycosylation Disorders Glycosylation is a critical post-translational modification affecting protein stability, localization, and function. Disorders of glycosylation have been increasingly recognized with advancements in...

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  17. Pyridoxal 5 Phosphate Dependent Epilepsyhttps://cnke.org/articles/31

    PNPO deficiency (OMIM 6032870) is an autosomal recessive inborn error of metabolism that leads to a seizure disorder, presenting in the newborn period (neonatal epileptic encephalopathy) or early infancy, that can be treated with pyridoxal 5’-phosphate...

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    • Author: Editor CNKE
    • Category: Articles

  18. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    Investigations and Management of Rare Treatable Neurological Disorders 1. AR-GCH1 Deficiency Without Hyperphenylalaninaemia Presentation: Resembles cerebral palsy, oculogyric crises, tremulousness, bradykinesia. Key Investigations: Phenylalanine...

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  19. Investigations of the baby with abnormal neurologyhttps://cnke.org/articles/317

    Flat baby Further neurological investigations are indicated when the aetiology is not clearly asphyxia, trauma, infection or poisoning. Contributory causes include myotonic dystrophy and some congenital myopathies, glycine encephalopathy, mitochondrial...

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Results 1 - 19 of 19