about
Epilepsy and mental retardation limited to females: an under-recognized disorderRecurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects.Epileptic spasms are a feature of DEPDC5 mTORopathy.Genetic variations and associated pathophysiology in the management of epilepsy.Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?Copy number variants are frequent in genetic generalized epilepsy with intellectual disabilityGABRA1 and STXBP1: novel genetic causes of Dravet syndrome.Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.Genetic epilepsy with febrile seizures plus: Refining the spectrum.KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.GOSR2: a progressive myoclonus epilepsy gene.Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling.Do mutations in SCN1B cause Dravet syndrome?SCN1A variations and response to multiple antiepileptic drugs.SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.Mutations in KCNT1 cause a spectrum of focal epilepsies.Genetics of the epilepsies: genetic twists in the channels and other tales.Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.PRRT2 mutation in Japanese children with benign infantile epilepsy.A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!Mutations inPRRT2are not a common cause of infantile epileptic encephalopathiesRare protein sequence variation in SV2A gene does not affect response to levetiracetamInvestigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypesMutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral NeuropathyBRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblingsReplyProposed genetic classification of the “benign” familial neonatal and infantile epilepsiesMild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.Novel ID gene CSNK2B: The crossover from molecular diagnosis to research continues
P50
Q29039028-67057588-0391-45BF-95D2-48CAD39FF44BQ34180433-0E3F004F-DD8D-4D75-8E6E-DACD8E105805Q34448160-AA619B89-11F0-4374-84AE-B45FF9CC3CF6Q35619223-C763F299-5E9F-4EFD-87B5-9B9173C7B767Q36602948-1CA7B6D0-E9A0-4BA9-8041-F4788C7C7C0CQ36729167-1F33DC7D-83E8-422C-B9FC-09CD910B2F26Q36925220-09B84745-A196-4FEC-A94C-9373539CECE8Q37388855-F20531C0-5FFD-4CEA-9B97-3C270DA20712Q37463466-2FDF6521-5939-4332-80C5-D5DE9FBE437FQ37725930-3EF822F4-0C3F-4AC6-9E59-359DBB139ED3Q38076226-CCE6F0E4-BDF2-427E-9BDD-82FADE95B567Q38607703-00B8DFBA-A32E-4899-84C2-9CB3BF723164Q38689167-9B13C124-A023-43C4-8023-609AA28DA53DQ38943065-827C0B89-C229-4905-8AE2-8C9E289F90B9Q38952145-97323FE5-C6E6-4305-A39D-01C9918B23FDQ40483745-53EF64A0-62FD-4F8E-921D-EB4D8AC92176Q41997482-E4664F6E-C14C-4521-840C-A792D003F434Q44893426-7BCE6CE2-613B-4B83-AC25-3550472EE31FQ45016382-4A90BE66-DA50-48F1-9FD1-64F62CD776ECQ47923406-533375C6-33D4-483A-A9AA-852160A2BD83Q48033009-8F71037E-9097-4F14-B593-D167A612A2E2Q48165076-BC44BA38-63BD-4899-AF71-D1BD7D397AE6Q48253191-EC0CAE07-A631-42B8-9318-E710B4E4D4A2Q48275662-28863F23-B037-4B4B-B178-A33A1B858C1AQ48306051-8A6693E7-8276-4647-9A94-384B64535D41Q50430043-E8D4D956-07BE-4273-8BCD-D60E1CB046F1Q50548852-06933EAA-01DB-40DB-87C5-05F81F0ADACFQ50657268-E5D077D0-9F9D-41E1-BA7B-3493A0DD1489Q57733942-3C7999FC-0838-4316-9A3D-ED77A19DE951Q57905523-6EDB0F3F-BC46-4395-9F70-EAE59457103BQ57905580-2C27194E-71DD-4ACB-B4C4-DC9F337E74EAQ57905599-9D0D1ED7-8578-47C7-8F2D-9513251723EAQ58416910-4D33B415-1D54-423A-A07B-EC169FEFD501Q59591784-DFE54A46-5179-42AB-A37F-71C15B6D4055Q59591791-4561CBB4-A4E3-4827-9C31-C57B57B0BC9FQ59591824-51BF0B4C-2086-49B2-8B56-BB945C652329Q64917790-E81CDFC9-7B50-4F7F-AD61-5E684636DA2EQ88797009-00A92EFB-0F80-4862-BD8C-AD72021F42C6
P50
description
researcher
@en
wetenschapper
@nl
name
Leanne Dibbens
@en
Leanne Dibbens
@nl
type
label
Leanne Dibbens
@en
Leanne Dibbens
@nl
prefLabel
Leanne Dibbens
@en
Leanne Dibbens
@nl
P106
P31
P496
0000-0002-5824-3342