This patient adds unique clinical presentations of neurological and nephroureteral abnormalities to the features of 9q33q34 microdeletion. [ncbi.nlm.nih.gov]

No single cause has been identified, although in many cases structural brain damage is present. [en.wikipedia.org]

AB - Dravet Syndrome (SMEI) is an idiopathic generalized epileptic syndrome presenting with heterogeneous phenotypes. [moh-it.pure.elsevier.com]

NCI National Institute of Child Health and Human Development A neurological disorder characterized by recurring seizures presenting within the first three months of life, progressive cerebral dysfunction, and an EEG pattern of periods of low electrical [doctor.am]

• Rigor

  Abstract Nosological confusion within the epilepsies with myoclonic manifestations occurring in early life has led several epileptologists to separate more rigorously true myoclonic seizures from pseudomyoclonic ones and to identify clusters of homogeneous [ncbi.nlm.nih.gov]

  Journal of Clinical Neurophysiology: July 1990 ARTICLE: PDF Only Abstract Summary Nosological confusion within the epilepsies with myoclonic manifestations occurring in early life has led several epileptologists to separate more rigorously true myoclonic [journals.lww.com]

  Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]

• Small Hand

  This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. [mendelian.co]

  Clinical Synopsis: INHERITANCE: X-linked dominant HEAD AND NECK: [Head]; Microcephaly, progressive RESPIRATORY: Breath-holding episodes; Hyperventilation SKELETAL: [Spine]; Scoliosis; [Hands]; Small hands; [Feet]; Small feet MUSCLE, SOFT TISSUE: Hypotonia [genome.jp]

• Global Developmental Delay

  Diseases related with Global developmental delay and Short palm In the following list you will find some of the most common rare diseases related to Global developmental delay and Short palm that can help you solving undiagnosed cases. [mendelian.co]

  BACKGROUND: Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. [ncbi.nlm.nih.gov]

  developmental delay resulting in mental retardation and poor motor control. [rgd.mcw.edu]

  developmental delay and intellectual disability. [jmg.bmj.com]

  The Simons Variation in Individuals Project is an online community that supports families with rare genetic changes (also called "genomic variants") associated with features of autism and developmental delay. [rarediseases.info.nih.gov]

• Involuntary Movements

  Other signs and symptoms may include intellectual disability, reduced muscle tone ( hypotonia ), hypsarrhythmia (an irregular pattern seen on EEG ), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. [rarediseases.info.nih.gov]

  movements AD 4 GRIN2B 138252 mental retardation- 6; early infantile epileptic encephalopathy 27 AD 19 GUF1 617064 early infantile epileptic encephalopathy, 40 AR 3 HCN1 602780 early infantile epileptic encephalopathy 24 AD 5 ITPA 147520 Epileptic encephalopathy [centogene.com]

  movements which is being advised by our results which is being enforced by our results 28, 30, 46. [nature.com]

• Infantile-Onset Seizures

  Conclusions This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family [dx.doi.org]

• Hyporeflexia

  Nystagmus Round face Autistic behavior Wide nasal bridge Micrognathia Myopia Autism Abnormality of cardiovascular system morphology Microtia Postnatal growth retardation Inability to walk Cognitive impairment Gait ataxia Focal seizures Sleep disturbance Hyporeflexia [mendelian.co]

• Areflexia

  Short neck Microphthalmia Midface retrusion Posteriorly rotated ears Narrow mouth Pes planus Abnormality of the pinna Flat face Microcornea Wide intermamillary distance Scrotal hypoplasia Hydrocele testis Overfolded helix Broad neck Ureterocele Hernia Areflexia [mendelian.co]

The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies. [dnatesting.uchicago.edu]

Additional workup of exome sequencing analysis revealed a hemizygous nonsense mutation in PIGA (c.1234C>T, p.Arg412 * ). The patient is currently undergoing hospitalization for treatment of respiratory failure and recurrent seizures. [synapse.koreamed.org]

Diagnostic workup In early myoclonic encephalopathy, EEG is characterized by a "burst-suppression" pattern with bursts of spikes, sharp waves, and slow waves, which are irregularly intermingled and separated by periods of electrical silence. [intechopen.com]

• Hypsarrhythmia

  […] from hypsarrhythmia to diffuse slow spike-waves at around age 1. [ncbi.nlm.nih.gov]

   EEG - suppression–burst activity, which evolves into hypsarrhythmia,accentuated during sleep,persists for prolonged periods.  Inborn errors of metabolism mc causes.  >50% die within weeks or months. 6. [slideshare.net]

  In the second stage, patient showed hypsarrhythmia, slow EEG activity with spike-wave anomalies, and mental retardation with no developmental progress. [genome.jp]

  West Syndrome (WS) aka as infantile spasms with hypsarrhythmia, EEG abnormality with asynchronous very high amplitude, irregular, continuous multifocal spike an slow wave discharges. [ijponline.biomedcentral.com]

• Burst Suppression on EEG

  KCNQ2E is often associated with a burst-suppression pattern on EEG but may have other non-specific abnormalities and is typically not normal between seizures, in contrast to BFNC. [kcnq2cure.org]

In severe cases with compatible electro-clinical features we propose a treatment algorithm based on a test trial with high dose intravenous phenytoin followed in case of a positive response by carbamazepine, more suitable for long-term maintenance treatment [ncbi.nlm.nih.gov]

Lachhwani Lippincott Williams & Wilkins, 2006 - 1247 Seiten Thoroughly updated, the Fourth Edition of The Treatment of Epilepsy: Principles and Practice remains the most comprehensive single-volume clinical reference on the epilepsies. [books.google.com]

Prognosis severe. Copyright © Fois; licensee BioMed Central Ltd. 2014 [ijponline.biomedcentral.com]

The author here reports on this patient focusing on the diagnosis and dismal prognosis. [ncbi.nlm.nih.gov]

Prognosis Children have a poor prognosis, experiencing developmental regression, and eventual severe mental retardation. [intechopen.com]

With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology. [ncbi.nlm.nih.gov]

Etiology No clear etiology is found in approximately 40% of cases ( Hrachovy, 2008 & Vigevano, 1992). [intechopen.com]

In this updated article, the authors review the clinical and neurophysiological data, management, and etiologic factors. [medlink.com]

Etiology EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities. [orpha.net]

Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments. [books.google.com]

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch. Dis. Child. 1999; 81(5):431-3. PMID: 10519720 Trevathan, E, et al. The descriptive epidemiology of infantile spasms among Atlanta children. [invitae.com]

Relevant External Links for PCDH19 Genetic Association Database (GAD) PCDH19 Human Genome Epidemiology (HuGE) Navigator PCDH19 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PCDH19 No data available for Genatlas for PCDH19 Gene Epilepsy [genecards.org]

Summary Epidemiology Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K. Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth. [orpha.net]

Cerebellar atrophy; Congenital ataxia; Early infantile epileptic encephalopathies; Pathophysiology; exome sequencing. [ibrain.univ-tours.fr]

These characteristic changes may lead to the pathophysiology of EIEE. [ncbi.nlm.nih.gov]

Citing Literature Number of times cited according to CrossRef: 33 Laura Gerosa, Maura Francolini, Silvia Bassani and Maria Passafaro, The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy [dx.doi.org]

Over weeks phenytoin was successfully switched to carbamazepine to prevent seizure relapses associated with difficulty in maintaining proper blood levels of phenytoin. Genetic analysis identified a novel de novo heterozygous mutation (c.[4633A>G]p. [ncbi.nlm.nih.gov]

Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them. [web.archive.org]

When EIEE is suspected, rapid and comprehensive genetic testing is critical to starting the child on a therapy that can prevent intractable seizures and severe cognitive dysfunction caused by the disease. [chop.edu]

Prevention No information is available. Genetic counseling might be helpful. 6.6. [intechopen.com]