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Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2004, Volume 30, Issue 2, pp. 135 - 139
The temporal relationship between convulsive seizures and the administration of β-lactams has long been recognized. A specific form of seizures, nonconvulsive... 
RENAL-FAILURE | PEDIATRICS | GUANIDINO COMPOUNDS | BRAIN | CLINICAL NEUROLOGY | Status Epilepticus - diagnosis | Ceftriaxone - adverse effects | Humans | Uremia - physiopathology | Status Epilepticus - chemically induced | Status Epilepticus - physiopathology | Uremia - drug therapy | Female | Child | Cephalosporins - adverse effects | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 07/1994, Volume 44, Issue 7, pp. 1332 - 1333
We report two children with hemisomatic spasms caused by neoplastic lesions in the region of the ipsilateral cerebellopontine angle. In this condition, seizure... 
GANGLIOGLIOMA | HEMIFACIAL SPASM | CLINICAL NEUROLOGY | Ganglioglioma - complications | Magnetic Resonance Imaging | Cerebellar Neoplasms - complications | Cerebellopontine Angle | Cerebellar Neoplasms - diagnosis | Ganglioglioma - diagnosis | Humans | Child, Preschool | Female | Male | Spasm - etiology
Journal Article
The Lancet, ISSN 0140-6736, 1993, Volume 341, Issue 8847, pp. 741 - 742
Journal Article
by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
Journal Article
Pediatric Neurology, ISSN 0887-8994, 02/2019, Volume 91, pp. 57 - 61
Mutations in , which plays an important role in the development and maintenance of axon-cytoskeleton integrity and regulating neurofilaments, cause... 
AIMP1 | Cerebral white matter | Epilepsy | N-acetylaspartate | DISEASE | DISORDER | PEDIATRICS | CLINICAL NEUROLOGY
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, pp. 242 - 242
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 736 - 742
Purpose: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of... 
candidate genes | ACMG guidelines | variant interpretation | CLINICAL VALIDITY | ASSOCIATIONS | LANDSCAPE | DISORDERS | DISCOVERY | INTELLECTUAL DISABILITY | EXOME SEQUENCING REVEALS | GENOMICS | GENETICS & HEREDITY | TRANSFER-RNA | MUTATIONS | Disease | Genomics | Index Medicus
Journal Article
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2015, Volume 19, Issue 5, pp. 547 - 552
Abstract Objective To compare the combination of biotin plus thiamine to thiamine alone in treating patients with biotin-responsive basal ganglia disease in an... 
Pediatrics | Neurology | SLC19A3 | Basal ganglia | Biotin | Thiamine | PEDIATRICS | MUTATIONS | CLINICAL NEUROLOGY | Prospective Studies | Humans | Adolescent | Child, Preschool | Female | Male | Thiamine - administration & dosage | Basal Ganglia Diseases - drug therapy | Child | Biotin - administration & dosage | Medicine, Experimental | Medical research | Pyrimidines | Comparative analysis | Index Medicus
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 04/1997, Volume 12, Issue 3, pp. 214 - 217
We report four patients with Schwartz-Jampel syndrome showing evidence of central conduction impairment documented by somatosensory evoked potentials. Median... 
MYOTONIA | PEDIATRICS | K TQ PEDIATRICS | K RT CLINICAL NEUROLOGY | CLINICAL NEUROLOGY | Osteochondrodysplasias - physiopathology | Brain - physiopathology | Humans | Evoked Potentials | Child, Preschool | Female | Infant | Male | Index Medicus
Journal Article
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